المؤلفون: Karayol, Remzi, Borroto, Maria, Haghshenas, Sadegheh, Namasivayam, Anoja, Reilly, Jack, Levy, Michael, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Shvedunova, Maria, Petersen, Andrea, Magnussen, Kari, Zweier, Christiane, Vasileiou, Georgia, Reis, André, Savatt, Juliann, Mulligan, Meghan, Bicknell, Louise, Poke, Gemma, Abu-El-Haija, Aya, Duis, Jessica, Hannig, Vickie, Srivastava, Siddharth, Barkoudah, Elizabeth, Hauser, Natalie, van den Born, Myrthe, Hamiel, Uri, Henig, Noa, Baris Feldman, Hagit, McKee, Shane, Krapels, Ingrid, Lei, Yunping, Todorova, Albena, Yordanova, Ralitsa, Atemin, Slavena, Rogac, Mihael, McConnell, Vivienne, Chassevent, Anna, Barañano, Kristin, Shashi, Vandana, Sullivan, Jennifer, Peron, Angela, Iascone, Maria, Canevini, Maria, Friedman, Jennifer, Reyes, Iris, Kierstein, Janell, Shen, Joseph, Ahmed, Faria, Mao, Xiao, Almoguera, Berta, Blanco-Kelly, Fiona, Platzer, Konrad, Treu, Ariana-Berenike, Quilichini, Juliette, Bourgois, Alexia, Chatron, Nicolas, Januel, Louis, Rougeot, Christelle, Carere, Deanna, Monaghan, Kristin, Rousseau, Justine, Myers, Kenneth, Sadikovic, Bekim, Akhtar, Asifa, Campeau, Philippe

المصدر: American Journal of Human Genetics. 111(7)

مصطلحات موضوعية: MSL2, autism, connective tissue, epigenetics, epilepsy, episignature, iPSC, male-specific lethal complex, neurodevelopmental syndrome, Adolescent, Child, Child, Preschool, Female, Humans, Male, Developmental Disabilities, DNA Methylation, Epigenesis, Genetic, Epilepsy, Histones, Induced Pluripotent Stem Cells, Intellectual Disability, Neurodevelopmental Disorders, Phenotype, Ubiquitin-Protein Ligases

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4qw4q94w
https://escholarship.org/content/qt4qw4q94w/qt4qw4q94w.pdf

المؤلفون: Mannucci, Ilaria, Dang, Nghi DP, Huber, Hannes, Murry, Jaclyn B, Abramson, Jeff, Althoff, Thorsten, Banka, Siddharth, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J, Berland, Siren, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A, Braathen, Geir Julius, Busk, Øyvind L, Chenbhanich, Jirat, Denecke, Jonas, Escobar, Luis F, Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A, Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Le Guyader, Gwenael, Ljungblad, Ulf W, Brenman, Leslie Manace, Martinez-Agosto, Julian A, Might, Matthew, Miller, David T, Minks, Kelly Q, Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F, Parant, John M, Prescott, Trine, Rajabi, Farrah, Randrianaivo, Hanitra, Reiter, Simone F, Schuurs-Hoeijmakers, Janneke, Shieh, Perry B, Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander PA, Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H, Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Kreienkamp, Hans-Jürgen, Lessel, Davor

المصدر: Genome Medicine. 13(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Clinical Research, Mental Health, Prevention, Aetiology, 4.1 Discovery and preclinical testing of markers and technologies, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, Animals, Biomarkers, Gene Expression, Gene Knockdown Techniques, Genetic Association Studies, Genetic Predisposition to Disease, Germ-Line Mutation, HEK293 Cells, Humans, Immunohistochemistry, Mutation, Neurodevelopmental Disorders, Phenotype, RNA Helicases, Zebrafish, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3qt8w4z5
https://escholarship.org/content/qt3qt8w4z5/qt3qt8w4z5.pdf

المؤلفون: Gillentine, Madelyn A, Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N, De Vries, Bert BA, Vissers, Lisenka ELM, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A, Bhat, Gifty, Cobian, Katherine, Bird, Lynne M, Friedman, Jennifer, Wright, Meredith S, Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K, White, Kerry M, Elpeleg, Orly, Berger, Itai, Espineli, Edward J, Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, CAUSES Study, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L Manace, Mckee, Shane, Mirzaa, Ghayda M, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen EH, van Gassen, Koen LI, Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, SPARK Consortium, Earl, Rachel K, Nowakowski, Tomasz, Bernier, Raphael A, Eichler, Evan E

المصدر: Genome medicine. 13(1)

مصطلحات موضوعية: CAUSES Study, SPARK Consortium, Cortex development, Gene families, Neurodevelopmental disorders, hnRNPs, Genetics, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9ff2t46d

المؤلفون: van der Laan, Liselot, Lauffer, Peter, Rooney, Kathleen, Silva, Ananília, Haghshenas, Sadegheh, Relator, Raissa, Levy, Michael A., Trajkova, Slavica, Huisman, Sylvia A., Bijlsma, Emilia K., Kleefstra, Tjitske, Van Bon, Bregje W., Baysal, Özlem, Zweier, Christiane, Palomares-Bralo, María, Fischer, Jan, Szakszon, Katalin, Faivre, Laurence, Piton, Amélie, Mesman, Simone, Hochstenbach, Ron, Elting, Mariet W., van Hagen, Johanna M., Plomp, Astrid, Mannens, Marcel M., Alders, Mariëlle, van Haelst, Mieke M., Ferrero, Giovanni B., Brusco, Alfredo, Henneman, Peter, Sweetser, David A., Sadikovic, Bekim, Vitobello, Antonio, Menke, Leonie A.

مصطلحات موضوعية: Orvostudományok, Klinikai orvostudományok

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2437/370348; https://ebib.lib.unideb.hu/ebib/CorvinaWeb?action=cclfind&resultview=long&ccltext=idno+BIBFORM121419; https://linkinghub.elsevier.com/retrieve/pii/S2666247724000289; http://dx.doi.org/10.1016/j.xhgg.2024.100289

الاتاحة: https://hdl.handle.net/2437/370348
https://ebib.lib.unideb.hu/ebib/CorvinaWeb?action=cclfind&resultview=long&ccltext=idno+BIBFORM121419
https://linkinghub.elsevier.com/retrieve/pii/S2666247724000289
https://doi.org/10.1016/j.xhgg.2024.100289

المؤلفون: Schmid, Cosima M, Gregor, Anne, Ruiz, Anna, Manso Bazús, Carmen, Herman, Isabella, Ammouri, Farah, Kotzaeridou, Urania, McNiven, Vanda, Dupuis, Lucie, Steindl, Katharina, Begemann, Anaïs, Rauch, Anita, Suter, Aude-Annick, Isidor, Bertrand, Mercier, Sandra, Nizon, Mathilde, Cogné, Benjamin, Deb, Wallid, Besnard, Thomas, Haack, Tobias B, Falb, Ruth J, Müller, Amelie J, Linden, Tobias, Haldeman-Englert, Chad R, Ockeloen, Charlotte W, Mattioli, Francesca, Reymond, Alexandre, Ibrahim, Nazia, Naz, Shagufta, Lacaze, Elodie, Bassetti, Jennifer Alisha, Hoefele, Julia, Brunet, Theresa, Riedhammer, Korbinian M, Elloumi, Houda Z, Person, Richard, Zou, Fanggeng, Kahle, Juliette J, Cremer, Kirsten, Schmidt, Axel, Delrue, Marie-Ange, Almeida, Pedro M, Ramos, Fabiana, Srivastava, Siddharth, Quinlan, Aisling, Robertson, Stephen, Manka, Eva, Kuechler, Alma, Spranger, Stephanie, Nowaczyk, Malgorzata J M, Elshafie, Reem M, Alsharhan, Hind, Hillman, Paul R, Dunnington, Leslie A, Braakman, Hilde M H, McKee, Shane, Moresco, Angelica, Ignat, Andrea-Diana, Newbury-Ecob, Ruth, Banneau, Guillaume, Patat, Olivier, Kuerbitz, Jeffrey, Rzucidlo, Susan, Sell, Susan S, Gordon, Patricia, Schuhmann, Sarah, Reis, André, Halleb, Yosra, Stoeva, Radka, Keren, Boris, Al Masseri, Zainab, Tumer, Zeynep, Hammer-Hansen, Sophia, Krüger Sølyst, Sofus, Steigerwald, Connolly G, Abreu, Nicolas J, Faust, Helene, Müller-Nedebock, Amica, Tran Mau-Them, Frédéric, Sticht, Heinrich, Zweier, Christiane

المصدر: Schmid, Cosima M; Gregor, Anne; Ruiz, Anna; Manso Bazús, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; McNiven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogné, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B; Falb, Ruth J; Müller, Amelie J; Linden, Tobias; Haldeman-Englert, Chad R; Ockeloen, Charlotte W; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer Alisha; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M; Elloumi, Houda Z; Person, Richard; Zou, Fanggeng; Kahle, Juliette J; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M; Ramos, Fabiana; Srivastava, ....

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics, Genetics (clinical), Autism spectrum disorders, Genetics research

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/266396/1/s41431_024_01760_2.pdf; info:pmid/39668183; urn:issn:1018-4813

الاتاحة: https://www.zora.uzh.ch/id/eprint/266396/
https://www.zora.uzh.ch/id/eprint/266396/1/s41431_024_01760_2.pdf

المؤلفون: Gong, Maolei, Li, Jiayi, Qin, Zailong, Machado Bressan Wilke, Matheus Vernet, Liu, Yijun, Li, Qian, Liu, Haoran, Liang, Chen, Morales-Rosado, Joel, Cohen, Ana S.A., Hughes, Susan, Sullivan, Bonnie, Waddell, Valerie, van den Boogaard, Marie-José, van Jaarsveld, Richard, van Binsbergen, Ellen, van Gassen, Koen, Wang, Tianyun, Hiatt, Susan, Amaral, Michelle, Kelley, Whitley, Zhao, Jianbo, Feng, Weixing, Ren, Changhong, Yu, Yazhen, Boczek, Nicole, Ferber, Matthew, Lahner, Carrie, Elliott, Sherr, Ruan, Yiyan, Mignot, Cyril, Keren, Boris, Xie, Hua, Wang, Xiaoyan, Popp, Bernt, Zweier, Christiane, Piard, Juliette, Coubes, Christine, Mau-Them, Frederic Tran, Safraou, Hana, Innes, A. Micheil, Gauthier, Julie, Michaud, Jacques, Koboldt, Daniel, Odent, Sylvie, Willems, Marjolaine, Tan, Wen-Hann, Cogne, Benjamin, Rieubland, Claudine, Braun, Dominique, Mclean, Scott Douglas, Platzer, Konrad, Zacher, Pia, Oppermann, Henry, Evenepoel, Lucie, Blanc, Pierre, El Khattabi, Laïla, Haque, Neshatul, Dsouza, Nikita, Zimmermann, Michael, Urrutia, Raul, Klee, Eric, Shen, Yiping, Du, Hongzhen, Rappaport, Leonard, Liu, Chang-Mei, Chen, Xiaoli

المساهمون: Chinese Academy of Sciences Beijing (CAS), Mayo Clinic Rochester, University Medical Center Utrecht (UMCU), HudsonAlpha Institute for Biotechnology Huntsville, AL, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Center for Translational and Molecular medicine Dijon - UMR1231 (CTM), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Hôpital Arnaud de Villeneuve CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut du Thorax Nantes, Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), This work was supported by grants from the National Key Research and Development Program of China (project 2021YFA1101402), the Strategic Priority Research Program of the Chinese Academy of Sciences (nos. XDA16010300/XDA16021400), and the Open Project Program of the State Key Laboratory of Stem Cell and Reproductive Biology. This study was also supported by grants from the National Science Foundation of China (82371868, 82271428, 31900690, 82201314, and 82471194), Beijing Natural Science Foundation (7202019), Beijing Finance Bureau (CIP2024-0040), and Guangxi Science and Technology Program Project (Guike AB17195011).

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: LoF, MARK2 variants, WNT/β-catenin signaling pathway, lithium, autism spectrum disorder, ASD, loss-of-function, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

الاتاحة: https://univ-rennes.hal.science/hal-04783112
https://univ-rennes.hal.science/hal-04783112v1/document
https://univ-rennes.hal.science/hal-04783112v1/file/PIIS0002929724003665.pdf
https://doi.org/10.1016/j.ajhg.2024.09.006

المؤلفون: HA, Thoa, MORGAN, Angela, BARTOS, Meghan N, BEATTY, Katelyn, COGNÉ, Benjamin, BRAUN, Dominique, GERBER, Céline B, GASPAR, Harald, KOPPS, Anna M, RIEUBLAND, Claudine, HURST, Anna C E, AMOR, David J, NIZON, Mathilde, PASQUIER, Laurent, PFUNDT, Rolph, REIS, André, SIU, Victoria Mok, TESSARECH, Marine, THOMPSON, Michelle L, VINCENT, Marie, DE VRIES, Bert B A, WALSH, Matthew B, WECHSLER, Stephanie Burns, ZWEIER, Christiane, SCHNUR, Rhonda E, GUILLEN SACOTO, Maria J, MARGOT, Henri, MASOTTO, Barbara, PALAFOLL, Maria Irene Valenzuela, NAWAZ, Urwah, VOINEAGU, Irina, SLAVOTINEK, Anne

مصطلحات موضوعية: Developmental delay, DIP2, DIP2C, Intellectual disability, Speech articulation, Speech delay, Sciences du Vivant [q-bio]/Génétique

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/204056
https://hdl.handle.net/20.500.12278/204056
https://doi.org/10.1002/ajmg.a.63559

المؤلفون: De Hayr, Lachlan, Blok, Laura E.R., Dias, Kerith-Rae, Long, Jingyi, Begemann, Anaïs, Moir, Robyn D., Willis, Ian M., Mocera, Martina, Siegel, Gabriele, Steindl, Katharina, Evans, Carey-Anne, Zhu, Ying, Zhang, Futao, Field, Michael, Ma, Alan, Adès, Lesley, Josephi-Taylor, Sarah, Pfundt, Rolph, Zaki, Maha S., Tomoum, Hoda, Gregor, Anne, Laube, Julia, Reis, André, Maddirevula, Sateesh, Hashem, Mais O., Zweier, Markus, Alkuraya, Fowzan S., Maroofian, Reza, Buckley, Michael F., Gleeson, Joseph G., Zweier, Christiane, Coll-Tané, Mireia, Koolen, David A., Rauch, Anita, Roscioli, Tony, Schenck, Annette, Harvey, Robert J.

المصدر: Genetics in Medicine ; page 101253 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1016/j.gim.2024.101253
https://api.elsevier.com/content/article/PII:S1098360024001874?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360024001874?httpAccept=text/plain

المؤلفون: Layo-Carris, Dana E., Lubin, Emily E., Sangree, Annabel K., Clark, Kelly J., Durham, Emily L., Gonzalez, Elizabeth M., Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I., Nowaczyk, M. J. M., Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K., Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y., Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M., Veltra, Danai, Sofocleous, Christalena

المصدر: European Journal of Human Genetics ; volume 32, issue 8, page 1032-1032 ; ISSN 1018-4813 1476-5438

الاتاحة: https://doi.org/10.1038/s41431-024-01659-y
https://www.nature.com/articles/s41431-024-01659-y.pdf
https://www.nature.com/articles/s41431-024-01659-y

المؤلفون: Kraemer, Dennis, Terumalai, Dillenn, Famiglietti, Maria Livia, Filges, Isabel, Joset, Pascal, Koller, Samuel, Maurer, Fabienne, Meier, Stéphanie, Nouspikel, Thierry, Sanz, Javier, Zweier, Christiane, Abramowicz, Marc, Berger, Wolfgang, Cichon, Sven, Schaller, André, Superti-Furga, Andrea, Barbié, Valérie, Rauch, Anita

المصدر: Kraemer, Dennis; Terumalai, Dillenn; Famiglietti, Maria Livia; Filges, Isabel; Joset, Pascal; Koller, Samuel; Maurer, Fabienne; Meier, Stéphanie; Nouspikel, Thierry; Sanz, Javier; Zweier, Christiane; Abramowicz, Marc; Berger, Wolfgang; Cichon, Sven; Schaller, André; Superti-Furga, Andrea; Barbié, Valérie; Rauch, Anita (2024). SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland. Journal of Personalized Medicine, 14(6):648.

مصطلحات موضوعية: Institute of Medical Genetics, Institute of Medical Molecular Genetics, Zurich Center for Integrative Human Physiology (ZIHP), Neuroscience Center Zurich, 610 Medicine & health, 570 Life sciences, biology, Genetics, Genetics (clinical), SwissGenVar, Switzerland, NGS, expert-curated variant interpretation, national mutation database, genotype–phenotype database, personalized medicine, clinical decision making

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/260440/6/jpm_14_00648.pdf; info:pmid/38929869; urn:issn:2075-4426

الاتاحة: https://www.zora.uzh.ch/id/eprint/260440/
https://www.zora.uzh.ch/id/eprint/260440/6/jpm_14_00648.pdf
https://doi.org/10.3390/jpm14060648

المؤلفون: Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Traeger Synodinos, Joanne, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, L E Guyader, Gwenaël, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, Bryant, Laura M

المساهمون: Genetica Klinische Genetica, Child Health

مصطلحات موضوعية: Genetics(clinical), Genetics, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/454819

الاتاحة: https://dspace.library.uu.nl/handle/1874/454819

المؤلفون: Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, Piard, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam, Zweier, Christiane, Smol, Thomas, Willems, Marjolaine, Faivre, Laurence, Scala, Marcello, Striano, Pasquale, Bagnasco, Irene, Koboldt, Daniel, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse

المصدر: Paulet , A , Bennett-Ness , C , Ageorges , F , Trost , D , Green , A , Goudie , D , Jewell , R , Kraatari-Tiri , M , Piard , J , Coubes , C , Lam , W , Lynch , S A , Groeschel , S , Ramond , F , Fluss , J , Fagerberg , C , Brasch Andersen , C , Varvagiannis , K , Kleefstra , T , Gérard , B , Fradin , M , Vitobello , A , Tenconi , R , Denommé-Pichon , A-S , Vincent-Devulder ....

وصف الملف: application/pdf

الاتاحة: https://discovery.dundee.ac.uk/en/publications/8b873177-a2a2-4ffb-9a6e-64e1d06f85c2
https://doi.org/10.1038/s41431-024-01560-8
https://discovery.dundee.ac.uk/ws/files/125437937/AAM_EJHG_main_text.pdf
https://www.research.ed.ac.uk/en/publications/expansion-of-the-neurodevelopmental-phenotype-of-individuals-with

المؤلفون: Kim, Jonggeol Jeffrey, Vitale, Dan, Otani, Diego Véliz, Lian, Michelle Mulan, Heilbron, Karl, Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Cannon, Paul, Coker, Daniella, Partida, Gabriel Cuellar, Dhamija, Devika, Das, Sayantan, Elson, Sarah L., Eriksson, Nicholas, Filshtein, Teresa, Fitch, Alison, Fletez-Brant, Kipper, Fontanillas, Pierre, Freyman, Will, Granka, Julie M., Hernandez, Alejandro, Hicks, Barry, Hinds, David A., Jewett, Ethan M., Jiang, Yunxuan, Kukar, Katelyn, Kwong, Alan, Lin, Keng-Han, Llamas, Bianca A., Lowe, Maya, McCreight, Jey C., McIntyre, Matthew H., Micheletti, Steven J., Moreno, Meghan E., Nandakumar, Priyanka, Nguyen, Dominique T., Noblin, Elizabeth S., O'Connell, Jared, Petrakovitz, Aaron A., Poznik, G. David, Reynoso, Alexandra, Schloetter, Madeleine, Schumacher, Morgan, Shastri, Anjali J., Shelton, Janie F., Shi, Jingchunzi, Shringarpure, Suyash, Su, Qiaojuan Jane, Tat, Susana A., Tchakouté, Christophe Toukam, Tran, Vinh, Tung, Joyce Y., Wang, Xin, Wang, Wei, Weldon, Catherine H., Wilton, Peter, Wong, Corinna D., Iwaki, Hirotaka, Lake, Julie, Solsberg, Caroline Warly, Leonard, Hampton, Makarious, Mary B., Tan, Eng-King, Singleton, Andrew B., Bandres-Ciga, Sara, Noyce, Alastair J., Gatto, Emilia M., Kauffman, Marcelo, Khachatryan, Samson, Tavadyan, Zaruhi, Shepherd, Claire E., Hunter, Julie, Kumar, Kishore, Ellis, Melina, Rentería, Miguel E., Koks, Sulev, Zimprich, Alexander, Schumacher-Schuh, Artur F., Rieder, Carlos, Awad, Paula Saffie, Tumas, Vitor, Camargos, Sarah, Fon, Edward A., Monchi, Oury, Fon, Ted, Galleguillos, Benjamin Pizarro, Miranda, Marcelo, Bustamante, Maria Leonor, Olguin, Patricio, Chana, Pedro, Tang, Beisha, Shang, Huifang, Guo, Jifeng, Chan, Piu, Luo, Wei, Arboleda, Gonzalo, Orozc, Jorge, del Rio, Marlene Jimenez, Hernandez, Alvaro, Salama, Mohamed, Kamel, Walaa A., Zewde, Yared Z., Brice, Alexis, Corvol, Jean-Christophe, Westenberger, Ana, Illarionova, Anastasia, Mollenhauer, Brit, Klein, Christine, Vollstedt, Eva-Juliane, Hopfner, Franziska, Höglinger, Günter, Madoev, Harutyun, Trinh, Joanne, Junker, Johanna, Lohmann, Katja, Lange, Lara M., Sharma, Manu, Groppa, Sergiu, Gasser, Thomas, Fang, Zih-Hua, Akpalu, Albert, Xiromerisiou, Georgia, Hadjigorgiou, Georgios, Dagklis, Ioannis, Tarnanas, Ioannis, Stefanis, Leonidas, Stamelou, Maria, Dadiotis, Efthymios, Medina, Alex, Chan, Germaine Hiu-Fai, Ip, Nancy, Cheung, Nelson Yuk-Fai, Chan, Phillip, Zhou, Xiaopu, Kishore, Asha, Divya, K. P., Pal, Pramod, Kukkle, Prashanth Lingappa, Rajan, Roopa, Borgohain, Rupam, Salari, Mehri, Quattrone, Andrea, Valente, Enza Maria, Parnetti, Lucilla, Avenali, Micol, Schirinzi, Tommaso, Funayama, Manabu, Hattori, Nobutaka, Shiraishi, Tomotaka, Karimova, Altynay, Kaishibayeva, Gulnaz, Shambetova, Cholpon, Krüger, Rejko, Tan, Ai Huey, Ahmad-Annuar, Azlina, Norlinah, Mohamed Ibrahim, Murad, Nor Azian Abdul, Azmin, Shahrul, Lim, Shen-Yang, Mohamed, Wael, Tay, Yi Wen, Martinez-Ramirez, Daniel, Rodriguez-Violante, Mayela, Reyes-Pérez, Paula, Tserensodnom, Bayasgalan, Ojha, Rajeev, Anderson, Tim J., Pitcher, Toni L., Sanyaolu, Arinola, Okubadejo, Njideka, Ojo, Oluwadamilola, Aasly, Jan O., Pihlstrøm, Lasse, Tan, Manuela, Ur-Rehman, Shoaib, Veliz-Otani, Diego, Cornejo-Olivas, Mario, Doquenia, Maria Leila, Rosales, Raymond, Vinuela, Angel, Iakovenko, Elena, Mubarak, Bashayer Al, Umair, Muhammad, Amod, Ferzana, Carr, Jonathan, Bardien, Soraya, Jeon, Beomseok, Kim, Yun Joong, Cubo, Esther, Alvarez, Ignacio, Hoenicka, Janet, Beyer, Katrin, Periñan, Maria Teresa, Pastor, Pau, El-Sadig, Sarah, Brolin, Kajsa, Zweier, Christiane, Tinkhauser, Gerd, Krack, Paul, Lin, Chin-Hsien, Wu, Hsiu-Chuan, Kung, Pin-Jui, Wu, Ruey-Meei, Wu, Yihru, Amouri, Rim, Sassi, Samia Ben, Baak, A. Nazl, Genc, Gencer, Çakmak, Özgür Öztop, Ertan, Sibel, Martínez-Carrasco, Alejandro, Schrag, Anette, Schapira, Anthony, Carroll, Camille, Bale, Claire, Grosset, Donald, Stafford, Eleanor J., Houlden, Henry, Morris, Huw R., Hardy, John, Mok, Kin Ying, Rizig, Mie, Wood, Nicholas, Williams, Nigel, Okunoye, Olaitan, Lewis, Patrick Alfryn, Kaiyrzhanov, Rauan, Weil, Rimona, Love, Seth, Stott, Simon, Jasaityte, Simona, Dey, Sumit, Obese, Vida, Espay, Alberto, O'Grady, Alyssa, Sobering, Andrew K., Siddiqi, Bernadette, Casey, Bradford, Fiske, Brian, Jonas, Cabell, Cruchaga, Carlos, Pantazis, Caroline B., Comart, Charisse, Wegel, Claire, Hall, Deborah, Hernandez, Dena, Shiamim, Ejaz, Riley, Ekemini, Faghri, Faraz, Serrano, Geidy E., Chen, Honglei, Mata, Ignacio F., Sarmiento, Ignacio Juan Keller, Williamson, Jared, Jankovic, Joseph, Shulman, Joshua, Solle, Justin C., Murphy, Kaileigh, Nuytemans, Karen, Kieburtz, Karl, Markopoulou, Katerina, Marek, Kenneth, Levine, Kristin S., Chahine, Lana M., Ibanez, Laura, Screven, Laurel, Ruffrage, Lauren, Shulman, Lisa, Marsili, Luca, Kuhl, Maggie, Dean, Marissa, Koretsky, Mathew, Puckelwartz, Megan J., Inca-Martinez, Miguel, Louie, Naomi, Mencacci, Niccolò Emanuele, Albin, Roger, Alcalay, Roy, Walker, Ruth, Chowdhury, Sohini, Dumanis, Sonya, Lubbe, Steven, Xie, Tao, Foroud, Tatiana, Beach, Thomas, Sherer, Todd, Song, Yeajin, Nguyen, Duan, Nguyen, Toan, Atadzhanov, Masharip, Blauwendraat, Cornelis, Nalls, Mike A., Foo, Jia Nee, Mata, Ignacio

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/167589/1/41588_2023_Article_1584.pdf; Kim, Jonggeol Jeffrey, Vitale, Dan, Otani, Diego Véliz, Lian, Michelle Mulan, Heilbron, Karl, Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Cannon, Paul, Coker, Daniella, Partida, Gabriel Cuellar, Dhamija, Devika, Das, Sayantan, Elson, Sarah L., Eriksson, Nicholas, Filshtein, Teresa, Fitch, Alison, Fletez-Brant, Kipper, Fontanillas, Pierre, Freyman, Will, Granka, Julie M., Hernandez, Alejandro, Hicks, Barry, Hinds, David A., Jewett, Ethan M., Jiang, Yunxuan, Kukar, Katelyn, Kwong, Alan, Lin, Keng-Han, Llamas, Bianca A., Lowe, Maya, McCreight, Jey C., McIntyre, Matthew H., Micheletti, Steven J., Moreno, Meghan E., Nandakumar, Priyanka, Nguyen, Dominique T., Noblin, Elizabeth S., O'Connell, Jared, Petrakovitz, Aaron A., Poznik, G. David, Reynoso, Alexandra, Schloetter, Madeleine, Schumacher, Morgan, Shastri, Anjali J., Shelton, Janie F., Shi, Jingchunzi, Shringarpure, Suyash, Su, Qiaojuan Jane, Tat, Susana A., Tchakouté, Christophe Toukam, Tran, Vinh, Tung, Joyce Y., Wang, Xin, Wang, Wei, Weldon, Catherine H., Wilton, Peter, Wong, Corinna D., Iwaki, Hirotaka, Lake, Julie, Solsberg, Caroline Warly, Leonard, Hampton, Makarious, Mary B., Tan, Eng-King, Singleton, Andrew B., Bandres-Ciga, Sara, Noyce, Alastair J., Gatto, Emilia M., Kauffman, Marcelo, Khachatryan, Samson, Tavadyan, Zaruhi, Shepherd, Claire E., Hunter, Julie, Kumar, Kishore, Ellis, Melina, Rentería, Miguel E., Koks, Sulev, Zimprich, Alexander, Schumacher-Schuh, Artur F., Rieder, Carlos, Awad, Paula Saffie, Tumas, Vitor, Camargos, Sarah, Fon, Edward A., Monchi, Oury, Fon, Ted, Galleguillos, Benjamin Pizarro, Miranda, Marcelo, Bustamante, Maria Leonor, Olguin, Patricio, Chana, Pedro, Tang, Beisha, Shang, Huifang, Guo, Jifeng, Chan, Piu, Luo, Wei, Arboleda, Gonzalo, Orozc, Jorge, del Rio, Marlene Jimenez, Hernandez, Alvaro, Salama, Mohamed, Kamel, Walaa A., Zewde, Yared Z., Brice, Alexis, Corvol, Jean-Christophe, Westenberger, Ana, Illarionova, Anastasia, Mollenhauer, Brit, Klein, Christine, Vollstedt, Eva-Juliane, Hopfner, Franziska, Höglinger, Günter, Madoev, Harutyun, Trinh, Joanne, Junker, Johanna, Lohmann, Katja, Lange, Lara M., Sharma, Manu, Groppa, Sergiu, Gasser, Thomas, Fang, Zih-Hua, Akpalu, Albert, Xiromerisiou, Georgia, Hadjigorgiou, Georgios, Dagklis, Ioannis, Tarnanas, Ioannis, Stefanis, Leonidas, Stamelou, Maria, Dadiotis, Efthymios, Medina, Alex, Chan, Germaine Hiu-Fai, Ip, Nancy, Cheung, Nelson Yuk-Fai, Chan, Phillip, Zhou, Xiaopu, Kishore, Asha, Divya, K. P., Pal, Pramod, Kukkle, Prashanth Lingappa, Rajan, Roopa, Borgohain, Rupam, Salari, Mehri, Quattrone, Andrea, Valente, Enza Maria, Parnetti, Lucilla, Avenali, Micol, Schirinzi, Tommaso, Funayama, Manabu, Hattori, Nobutaka, Shiraishi, Tomotaka, Karimova, Altynay, Kaishibayeva, Gulnaz, Shambetova, Cholpon, Krüger, Rejko, Tan, Ai Huey, Ahmad-Annuar, Azlina, Norlinah, Mohamed Ibrahim, Murad, Nor Azian Abdul, Azmin, Shahrul, Lim, Shen-Yang, Mohamed, Wael, Tay, Yi Wen, Martinez-Ramirez, Daniel, Rodriguez-Violante, Mayela, Reyes-Pérez, Paula, Tserensodnom, Bayasgalan, Ojha, Rajeev, Anderson, Tim J., Pitcher, Toni L., Sanyaolu, Arinola, Okubadejo, Njideka, Ojo, Oluwadamilola, Aasly, Jan O., Pihlstrøm, Lasse, Tan, Manuela, Ur-Rehman, Shoaib, Veliz-Otani, Diego, Cornejo-Olivas, Mario, Doquenia, Maria Leila, Rosales, Raymond, Vinuela, Angel, Iakovenko, Elena, Mubarak, Bashayer Al, Umair, Muhammad, Amod, Ferzana, Carr, Jonathan, Bardien, Soraya, Jeon, Beomseok, Kim, Yun Joong, Cubo, Esther, Alvarez, Ignacio, Hoenicka, Janet, Beyer, Katrin, Periñan, Maria Teresa, Pastor, Pau, El-Sadig, Sarah, Brolin, Kajsa, Zweier, Christiane, Tinkhauser, Gerd, Krack, Paul, Lin, Chin-Hsien, Wu, Hsiu-Chuan, Kung, Pin-Jui, Wu, Ruey-Meei, Wu, Yihru, Amouri, Rim, Sassi, Samia Ben, Baak, A. Nazl, Genc, Gencer, Çakmak, Özgür Öztop, Ertan, Sibel, Martínez-Carrasco, Alejandro, Schrag, Anette, Schapira, Anthony, Carroll, Camille, Bale, Claire, Grosset, Donald, Stafford, Eleanor J., Houlden, Henry, Morris, Huw R., Hardy, John, Mok, Kin Ying, Rizig, Mie, Wood, Nicholas, Williams, Nigel https://orca.cardiff.ac.uk/view/cardiffauthors/A0001924.html orcid:0000-0003-1177-6931 orcid:0000-0003-1177-6931, Okunoye, Olaitan, Lewis, Patrick Alfryn, Kaiyrzhanov, Rauan, Weil, Rimona, Love, Seth, Stott, Simon, Jasaityte, Simona, Dey, Sumit, Obese, Vida, Espay, Alberto, O'Grady, Alyssa, Sobering, Andrew K., Siddiqi, Bernadette, Casey, Bradford, Fiske, Brian, Jonas, Cabell, Cruchaga, Carlos, Pantazis, Caroline B., Comart, Charisse, Wegel, Claire, Hall, Deborah, Hernandez, Dena, Shiamim, Ejaz, Riley, Ekemini, Faghri, Faraz, Serrano, Geidy E., Chen, Honglei, Mata, Ignacio F., Sarmiento, Ignacio Juan Keller, Williamson, Jared, Jankovic, Joseph, Shulman, Joshua, Solle, Justin C., Murphy, Kaileigh, Nuytemans, Karen, Kieburtz, Karl, Markopoulou, Katerina, Marek, Kenneth, Levine, Kristin S., Chahine, Lana M., Ibanez, Laura, Screven, Laurel, Ruffrage, Lauren, Shulman, Lisa, Marsili, Luca, Kuhl, Maggie, Dean, Marissa, Koretsky, Mathew, Puckelwartz, Megan J., Inca-Martinez, Miguel, Louie, Naomi, Mencacci, Niccolò Emanuele, Albin, Roger, Alcalay, Roy, Walker, Ruth, Chowdhury, Sohini, Dumanis, Sonya, Lubbe, Steven, Xie, Tao, Foroud, Tatiana, Beach, Thomas, Sherer, Todd, Song, Yeajin, Nguyen, Duan, Nguyen, Toan, Atadzhanov, Masharip, Blauwendraat, Cornelis, Nalls, Mike A., Foo, Jia Nee and Mata, Ignacio 2024. Multi-ancestry genome-wide association meta-analysis of Parkinson?s disease. Nature Genetics 56 (1) , pp. 27-36. 10.1038/s41588-023-01584-8 https://doi.org/10.1038/s41588-023-01584-8 file https://orca.cardiff.ac.uk/id/eprint/167589/1/41588_2023_Article_1584.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/167589/
https://doi.org/10.1038/s41588-023-01584-8
https://orca.cardiff.ac.uk/id/eprint/167589/1/41588_2023_Article_1584.pdf

المؤلفون: Gregor, Anne, Zweier, Christiane

المصدر: Gregor, Anne; Zweier, Christiane (2024). Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems. Medizinische Genetik, 36(2), pp. 121-131. de Gruyter 10.1515/medgen-2024-2020

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/197728/

الاتاحة: https://boris.unibe.ch/197728/1/10.1515_medgen-2024-2020.pdf
https://boris.unibe.ch/197728/

المؤلفون: de Masfrand, Servane, Cogné, Benjamin, Nizon, Mathilde, Deb, Wallid, Goldenberg, Alice, Lecoquierre, François, Nicolas, Gaël, Bournez, Marie, Vitobello, Antonio, Mau-Them, Frédéric Tran, le Guyader, Gwenaël, Bilan, Frédéric, Bauer, Peter, Zweier, Christiane, Piard, Juliette, Pasquier, Laurent, Bézieau, Stéphane, Gerard, Bénédicte, Faivre, Laurence, Saugier-Veber, Pascale, Piton, Amélie, Isidor, Bertrand

المصدر: de Masfrand, Servane; Cogné, Benjamin; Nizon, Mathilde; Deb, Wallid; Goldenberg, Alice; Lecoquierre, François; Nicolas, Gaël; Bournez, Marie; Vitobello, Antonio; Mau-Them, Frédéric Tran; le Guyader, Gwenaël; Bilan, Frédéric; Bauer, Peter; Zweier, Christiane; Piard, Juliette; Pasquier, Laurent; Bézieau, Stéphane; Gerard, Bénédicte; Faivre, Laurence; Saugier-Veber, Pascale; . (2024). Penetrance, variable expressivity and monogenic neurodevelopmental disorders. European journal of medical genetics, 69, p. 104932. Elsevier 10.1016/j.ejmg.2024.104932

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/194034/

الاتاحة: https://boris.unibe.ch/194034/1/1-s2.0-S1769721224000247-main.pdf
https://boris.unibe.ch/194034/

المؤلفون: van der Laan, Liselot, Lauffer, Peter, Rooney, Kathleen, Silva, Ananília, Haghshenas, Sadegheh, Relator, Raissa, Levy, Michael A, Trajkova, Slavica, Huisman, Sylvia A, Bijlsma, Emilia K, Kleefstra, Tjitske, van Bon, Bregje W, Baysal, Özlem, Zweier, Christiane, Palomares-Bralo, María, Fischer, Jan, Szakszon, Katalin, Faivre, Laurence, Piton, Amélie, Mesman, Simone, Hochstenbach, Ron, Elting, Mariet W, van Hagen, Johanna M, Plomp, Astrid S, Mannens, Marcel M A M, Alders, Mariëlle, van Haelst, Mieke M, Ferrero, Giovanni B, Brusco, Alfredo, Henneman, Peter, Sweetser, David A, Sadikovic, Bekim, Vitobello, Antonio, Menke, Leonie A

المصدر: van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Trajkova, Slavica; Huisman, Sylvia A; Bijlsma, Emilia K; Kleefstra, Tjitske; van Bon, Bregje W; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; . (2024). DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants. (In Press). HGG advances, 5(3), p. 100289. Elsevier 10.1016/j.xhgg.2024.100289

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/195669/

الاتاحة: https://boris.unibe.ch/195669/1/1-s2.0-S2666247724000289-main.pdf
https://boris.unibe.ch/195669/

المؤلفون: Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Synodinos, Joanne Traeger, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, Guyader, Gwenaël L E, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, Bryant, Laura M

المصدر: Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; . (2024). Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), p. 1032. Springer Nature 10.1038/s41431-024-01659-y

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/199336/

الاتاحة: https://boris.unibe.ch/199336/1/s41431-024-01659-y.pdf
https://boris.unibe.ch/199336/

المؤلفون: Layo-Carris, Dana E., Lubin, Emily E., Sangree, Annabel K., Clark, Kelly J., Durham, Emily L., Gonzalez, Elizabeth M., Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I., Nowaczyk, M.J.M., Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K., Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y., Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M., Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Traeger Synodinos, Joanne, Voudris, Konstantinos A., Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, Frank, Meuwissen, Marije, Cocanougher, Benjamin T., Taylor, Kathryn, Pizoli, Carolyn E., McDonald, Marie T., James, Philip, Roeder, Elizabeth R., Littlejohn, Rebecca, Borja, Nicholas A., Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, L.E. Guyader, Gwenaël, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J.K., Bryant, Laura M.

المصدر: 1018-4813 ; European journal of human genetics

مصطلحات موضوعية: Chemistry, Biology, Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/001208822600001

الاتاحة: https://hdl.handle.net/10067/2058020151162165141
https://repository.uantwerpen.be/docstore/d:irua:23508

المؤلفون: Christen, Matthias, Gregor, Anne, Gutierrez Quintana, Rodrigo, Bongers, Jos, Rupp, Angie, Penderis, Jacques, Shelton, G. Diane, Jagannathan, Vidhya, Zweier, Christiane, Leeb, Tosso

وصف الملف: text

Relation: https://eprints.gla.ac.uk/319236/2/319236.pdf; Christen, M., Gregor, A., Gutierrez Quintana, R. , Bongers, J. , Rupp, A. , Penderis, J., Shelton, G. D., Jagannathan, V., Zweier, C. and Leeb, T. (2024) NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model. Scientific Reports , 14, 2975. (doi:10.1038/s41598-024-53314-7 ) (PMID:38316835) (PMCID:PMC10844639)

الاتاحة: https://eprints.gla.ac.uk/319236/
https://eprints.gla.ac.uk/319236/2/319236.pdf

المؤلفون: Rinaldi, Berardo, Bayat, Allan, Zachariassen, Linda G, Sun, Jia-Hui, Ge, Yu-Han, Zhao, Dan, Bonde, Kristine, Madsen, Laura H, Awad, Ilham Abdimunim Ali, Bagiran, Duygu, Sbeih, Amal, Shah, Syeda Maidah, El-Sayed, Shaymaa, Lyngby, Signe M, Pedersen, Miriam G, Stenum-Berg, Charlotte, Walker, Louise Claudia, Krey, Ilona, Delahaye-Duriez, Andrée, Emrick, Lisa T, Sully, Krystal, Murali, Chaya N, Burrage, Lindsay C, Plaud Gonzalez, Julie Ana, Parnes, Mered, Friedman, Jennifer, Isidor, Bertrand, Lefranc, Jérémie, Redon, Sylvia, Heron, Delphine, Mignot, Cyril, Keren, Boris, Fradin, Mélanie, Dubourg, Christele, Mercier, Sandra, Besnard, Thomas, Cogne, Benjamin, Deb, Wallid, Rivier, Clotilde, Milani, Donatella, Bedeschi, Maria Francesca, Di Napoli, Claudia, Grilli, Federico, Marchisio, Paola, Koudijs, Suzanna, Veenma, Danielle, Argilli, Emanuela, Lynch, Sally Ann, Au, Ping Yee Billie, Ayala Valenzuela, Fernando Eduardo, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Patron Romero, Leslie, Li, Wenhui Laura, Thorpe, Erin, Hecher, Laura, Johannsen, Jessika, Denecke, Jonas, McNiven, Vanda, Szuto, Anna, Wakeling, Emma, Cruz, Vincent, Sency, Valerie, Wang, Heng, Piard, Juliette, Kortüm, Fanny, Herget, Theresia, Bierhals, Tatjana, Condell, Angelo, Zeev, Bruria Ben, Kaur, Simranpreet, Christodoulou, John, Piton, Amelie, Zweier, Christiane, Kraus, Cornelia, Micalizzi, Alessia, Trivisano, Marina, Specchio, Nicola, Lesca, Gaetan, Møller, Rikke S, Tümer, Zeynep, Musgaard, Maria, Gerard, Benedicte, Lemke, Johannes R, Shi, Yun Stone, Kristensen, Anders S

المصدر: Rinaldi , B , Bayat , A , Zachariassen , L G , Sun , J-H , Ge , Y-H , Zhao , D , Bonde , K , Madsen , L H , Awad , I A A , Bagiran , D , Sbeih , A , Shah , S M , El-Sayed , S , Lyngby , S M , Pedersen , M G , Stenum-Berg , C , Walker , L C , Krey , I , Delahaye-Duriez , A , Emrick , L T , Sully , K , Murali , C N , Burrage ....

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/gainoffunction-and-lossoffunction-variants-in-gria3-lead-to-distinct-neurodevelopmental-phenotypes(2e407cc4-9236-4bb4-9432-c6e91bf172c4).html
https://doi.org/10.1093/brain/awad403
https://curis.ku.dk/ws/files/387070536/awad403_2_.pdf