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: 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: Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon

المساهمون: Genetica, Genetica Sectie Research, Cancer, Child Health

مصطلحات موضوعية: General Medicine

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/454122

الاتاحة: https://dspace.library.uu.nl/handle/1874/454122

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: Dudakova, Lubica, Noskova, Lenka, Kmoch, Stanislav, Filipec, Martin, Filous, Ales, Davidson, Alice E, Toulis, Vasileios, Jedlickova, Jana, Skalicka, Pavlina, Hartmannova, Hana, Stranecky, Viktor, Drabova, Jana, Novotna, Drahuse, Havlovicova, Marketa, Sedlacek, Zdenek, Liskova, Petra

المساهمون: Chen, Jian-Min

المصدر: Human Mutation , 2024 , Article 4450082. (2024)

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10185595/1/Davidson_Disruption%20of%20OVOL2%20Distal%20Regulatory%20Elements%20as%20a%20Possible%20Mechanism%20Implicated%20in%20Corneal%20Endothelial%20Dystrophy_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10185595/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10185595/1/Davidson_Disruption%20of%20OVOL2%20Distal%20Regulatory%20Elements%20as%20a%20Possible%20Mechanism%20Implicated%20in%20Corneal%20Endothelial%20Dystrophy_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10185595/

المؤلفون: Vlckova, Marketa, Prchalova, Darina, Zimmermann, Pavel, Haberlova, Jana, Bendova, Sarka, Moslerova, Veronika, Stranecky, Viktor, Sedlacek, Zdenek, Hancarova, Miroslava

المساهمون: Ministerstvo Zdravotnictví Ceské Republiky

المصدر: Molecular Genetics & Genomic Medicine ; volume 11, issue 6 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.2154
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2154
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.2154

المؤلفون: Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P, Gillentine, Madelyn A, Wilfert, Amy B, Perez-Jurado, Luis A, Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K, Rosenfeld, Jill A, Geisheker, Madeleine R, Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E, Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Dalla Bernardina, Bernardo, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette J V, Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J, Manning, Melanie A, Liu, Pengfei, Scheffer, Ingrid E, Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G, Santen, Gijs W E, Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J, Pierce, Karen, Courchesne, Eric, Kooy, R Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A, Gecz, Jozef, Xia, Kun, Eichler, Evan E

المساهمون: Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvi, Coe, Bradley P, Gillentine, Madelyn A, Wilfert, Amy B, Perez-Jurado, Luis A, Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K, Rosenfeld, Jill A, Geisheker, Madeleine R, Han, Lin, Du, Bing, Barnett, Chri, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E, Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, Mckenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Dalla Bernardina, Bernardo, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette J V, Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J, Manning, Melanie A, Liu, Pengfei, Scheffer, Ingrid E, Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G, Santen, Gijs W E, Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J, Pierce, Karen, Courchesne, Eric, Kooy, R Frank, Nordenskjöld, Magnu, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A, Gecz, Jozef, Xia, Kun, Eichler, Evan E

مصطلحات موضوعية: Autism spectrum disorders, Mutation, Neurodevelopmental disorders, Next-generation sequencing

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/33004838; info:eu-repo/semantics/altIdentifier/wos/WOS:000577113300012; volume:11; issue:4932; firstpage:1; lastpage:13; numberofpages:13; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11562/1026606; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85091936481; https://doi.org/10.1038/s41467-020-18723-y

الاتاحة: http://hdl.handle.net/11562/1026606
https://doi.org/10.1038/s41467-020-18723-y

المؤلفون: Jeanne, Médéric, Demory, Hélène, Moutal, Aubin, Vuillaume, Marie-Laure, Blesson, Sophie, Thépault, Rose-Anne, Marouillat, Sylviane, Halewa, Judith, Maas, Saskia M, Motazacker, M Mahdi, Mancini, Grazia M S, van Slegtenhorst, Marjon A, Andreou, Avgi, Cox, Helene, Vogt, Julie, Laufman, Jason, Kostandyan, Natella, Babikyan, Davit, Hancarova, Miroslava, Bendova, Sarka, Sedlacek, Zdenek, Aldinger, Kimberly A, Sherr, Elliott H, Argilli, Emanuela, England, Eleina M, Audebert-Bellanger, Séverine, Bonneau, Dominique, Colin, Estelle, Denommé-Pichon, Anne-Sophie, Gilbert-Dussardier, Brigitte, Isidor, Bertrand, Küry, Sebastien, Odent, Sylvie, Redon, Richard, Khanna, Rajesh, Dobyns, William B, Bézieau, Stéphane, Honnorat, Jérôme, Lohkamp, Bernhard, Toutain, Annick, Laumonnier, Frédéric

المساهمون: Imaging, Brain & Neuropsychiatry (iBraiN), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), University of Arizona, Amsterdam University Medical Centers (Amsterdam UMC), Erasmus University Medical Center Rotterdam (Erasmus MC), Birmingham Women's and Children's NHS Foundation Trust, University of Akron, Yerevan State Medical University after Mkhitar Heratsi, Univerzita Karlova Praha, Česká republika = Charles University Prague, Czech Republic (UK), Center for Integrative Brain Research, University of Washington Seattle, University of California Los Angeles (UCLA), University of California (UC), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School Boston (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital Boston, MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), 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 NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Karolinska Institutet Stockholm, National Human Genome Research Institute, Ministry of Health of the Czech Republic, DGOS, Wellcome Trust

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: DPYSL5, brain malformation, corpus callosum agenesis, de novo missense variants, dendrite branching, neurodevelopmental disorder, primary neuronal cultures, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/33894126; PUBMED: 33894126

الاتاحة: https://hal.science/hal-03221134
https://hal.science/hal-03221134v1/document
https://hal.science/hal-03221134v1/file/Jeanne_et%20al_2021_Missense%20variants%20in%20DPYSL5_accepted.pdf
https://doi.org/10.1016/j.ajhg.2021.04.004

المؤلفون: Chowdhury, Fuad, Wang, Lei, Al-Raqad, Mohammed, Amor, David J., Baxova, Alice, Bendova, Sarka, Biamino, Elisa, Brusco, Alfredo, Caluseriu, Oana, Cox, Nancy J., Froukh, Tawfiq, Gunay-Aygun, Meral, Hancarova, Miroslava, Haynes, Devon, Heide, Solveig, Hoganson, George, Kaname, Tadashi, Keren, Boris, Kosaki, Kenjiro, Kubota, Kazuo, Lemons, Jennifer M., Magrina, Maria A., Mark, Paul R., McDonald, Marie T., Montgomery, Sarah, Morley, Gina M., Ohnishi, Hidenori, Okamoto, Nobuhiko, Rodriguez-Buritica, David, Rump, Patrick, Sedlacek, Zdenek, Schatz, Krista, Streff, Haley, Uehara, Tomoko, Walia, Jagdeep S., Wheeler, Patricia G., Wiesener, Antje, Zweier, Christiane, Kawakami, Koichi, Wentzensen, Ingrid M., Lalani, Seema R., Siu, Victoria M., Bi, Weimin, Balci, Tugce B.

المصدر: Chowdhury , F , Wang , L , Al-Raqad , M , Amor , D J , Baxova , A , Bendova , S , Biamino , E , Brusco , A , Caluseriu , O , Cox , N J , Froukh , T , Gunay-Aygun , M , Hancarova , M , Haynes , D , Heide , S , Hoganson , G , Kaname , T , Keren , B , Kosaki , K , Kubota , K , Lemons , J M , Magrina , M A , Mark , P R , McDonald , ....

مصطلحات موضوعية: Animals, Haploinsufficiency/genetics, Humans, Intellectual Disability/genetics, Mice, Muscle Hypotonia, Mutation, Missense, Phenotype

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/8b645f00-a2db-4806-8c67-fe341888ac0d
https://research.rug.nl/en/publications/8b645f00-a2db-4806-8c67-fe341888ac0d
https://doi.org/10.1038/s41436-021-01129-6
https://pure.rug.nl/ws/files/191458682/Haploinsufficiency_of_PRR12_causes_a_spectrum_of_neurodevelopmental_eye_and_multisystem_abnormalities.pdf

المؤلفون: Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A.

المساهمون: Ministry of Health of the Czech Republic, Wellcome Trust, NHGRI, SFARI, Swiss National Science Foundation

المصدر: The American Journal of Human Genetics ; volume 108, issue 5, page 857-873 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2021.04.001
https://api.elsevier.com/content/article/PII:S0002929721001324?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929721001324?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, 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.

المساهمون: Genetica, Genetica Klinische Genetica, Child Health

مصطلحات موضوعية: Genetics, Genetics(clinical)

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/455100

الاتاحة: https://dspace.library.uu.nl/handle/1874/455100

المؤلفون: Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P, Gillentine, Madelyn A, Wilfert, Amy B, Perez-Jurado, Luis A, Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K, Rosenfeld, Jill A, Geisheker, Madeleine R, Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E, Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette JV, Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J, Manning, Melanie A, Liu, Pengfei, Scheffer, Ingrid E, Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G, Santen, Gijs WE, Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J, Pierce, Karen, Courchesne, Eric, Kooy, R Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A, Gecz, Jozef, Xia, Kun, Eichler, Evan E

المصدر: Nature Communications, vol 11, iss 1

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Commerce, Management, Tourism and Services, SPARK Consortium

Time: 5398

وصف الملف: application/pdf

Relation: qt5450h9c4; https://escholarship.org/uc/item/5450h9c4

الاتاحة: https://escholarship.org/uc/item/5450h9c4

المؤلفون: Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, H., Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, A., Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, E., Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, M., Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, S., Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, R., Falk, Marni J., McCormick, Elizabeth M., Timmers, H. T.Marc, van Hasselt, Peter M.

المصدر: Haijes , H A , Koster , M J E , Rehmann , H , Li , D , Hakonarson , H , Cappuccio , G , Hancarova , M , Lehalle , D , Reardon , W , Schaefer , G B , Lehman , A , van de Laar , I M B H , Tesselaar , C D , Turner , C , Goldenberg , A , Patrier , S , Thevenon , J , Pinelli , M , Brunetti-Pierri , N , Prchalová , D , Havlovicová , M , Vlckova , M , Sedláček ....

مصطلحات موضوعية: de novo variants, desert regions, desert Z score, dominant-negative effect, haplo-insufficiency, infantile-onset hypotonia, neurodevelopmental syndrome, POLR2A, RNA polymerase II complex, RPB1

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/b9e06ef0-4075-4f2b-8563-0d8e9944967f
https://doi.org/10.1016/j.ajhg.2019.06.016
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6699192/pdf/main.pdf

المؤلفون: Hancarova, Miroslava, Babikyan, Davit, Bendova, Sarka, Midyan, Susanna, Prchalova, Darina, Shahsuvaryan, Gohar, Stranecky, Viktor, Sarkisian, Tamara, Sedlacek, Zdenek

المصدر: Molecular Genetics & Genomic Medicine ; volume 7, issue 9 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.865
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.865
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.865

المؤلفون: Prochazkova, Kamila, Novotny, Petr, Hancarova, Miroslava, Prchalova, Darina, Sedlacek, Zdenek

المساهمون: Ministerstvo Zdravotnictví Ceské Republiky

المصدر: BMC Medical Education ; volume 19, issue 1 ; ISSN 1472-6920

الاتاحة: http://dx.doi.org/10.1186/s12909-019-1817-2
http://link.springer.com/content/pdf/10.1186/s12909-019-1817-2.pdf
http://link.springer.com/article/10.1186/s12909-019-1817-2/fulltext.html

المؤلفون: Fiordaliso, Sarah K., Iwata-Otsubo, Aiko, Ritter, Alyssa L., Quesnel-Vallières, Mathieu, Fujiki, Katsunori, Nishi, Eriko, Hancarova, Miroslava, Miyake, Noriko, Morton, Jenny E.V., Lee, Sangmoon, Hackmann, Karl, Bando, Masashige, Masuda, Koji, Nakato, Ryuichiro, Arakawa, Michiko, Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Takeda, Ryojun, Harr, Margaret, Keena, Beth, Zackai, Elaine H., Okamoto, Nobuhiko, Mizuno, Seiji, Ko, Jung Min, Valachova, Alica, Prchalova, Darina, Vlckova, Marketa, Pippucci, Tommaso, Seiler, Christoph, Choi, Murim, Matsumoto, Naomichi, Di Donato, Nataliya, Barash, Yoseph, Sedlacek, Zdenek, Shirahige, Katsuhiko, Izumi, Kosuke

المصدر: The American Journal of Human Genetics ; volume 105, issue 5, page 987-995 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2019.09.009
https://api.elsevier.com/content/article/PII:S0002929719303489?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929719303489?httpAccept=text/plain

المؤلفون: Kuchtiak, Viktor, Cerny, Jiri, Benes, Vladimir, Sedlacek, Zdenek, Horacek, Jiri, Vyklicky, Ladislav, Balik, Ales

المصدر: IBRO Reports ; volume 6, page S272 ; ISSN 2451-8301

الاتاحة: http://dx.doi.org/10.1016/j.ibror.2019.07.846
https://api.elsevier.com/content/article/PII:S2451830119308982?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2451830119308982?httpAccept=text/plain

المؤلفون: Tommerup, Niels, Fonseca, Ana Carolina, Mehrjouy, Mana, Rasmussen, Malene B., Bache, Iben, Halgren, Christina, Kroisel, Peter, Midyan, Susanna, Vermeesch, Joris, Vianna-Morgante, Angela M., Abe, Kikue T., Moretti-Ferreira, Danilo, Paskulin, Giorgio, Angelova, Lyudmila, Rajcan-Separovic, Evica, Sismani, Carolina, Sedlacek, Zdenek, Fagerberg, Christina, Brondum-Nielsen, Karen, Vogel, Ida, Bojesen, Anders, Ounap, Katrin, Roht, Laura, Varilo, Teppo, Luukkonen, Tiia, Lespinasse, James, Beneteau, Claire, Kalscheuer, Vera M., Ehmke, Nadja, Daumer-Haas, Cornelia, Stefanou, Eunice G., Marta Czako, Kosztolanyi, Gyorgy, Sheth, Frenny, Zuffardi, Orsetta, Bonaglia, Clara, Novelli, Antonio, Fannemel, Madeleine, Dias, Patricia, Kokalj-Vokac, Nadja, Ramos-Arroyo, Maria A., Rodriguez Martinez, Laura, Guitart, Miriam, Schinzel, Albert, Engelen, John, Silan, Fatma, Akkari, Yassmine, Batanian, Jacqueline R., Kim, Hyung-Goo, Aristidou, Constantia, De Almeida, Cynthia, Lewis, Suzanne, Moreno-Igoa, Maria, Hovhannisyan, Anna, Jacky, Peter, Bak, Mads, Int Breakpoint Mapping Consortium

المساهمون: Universidade Estadual Paulista (UNESP)

Relation: Molecular Cytogenetics; 0,623; Molecular Cytogenetics. London: Biomed Central Ltd, v. 10, 1 p., 2017.; http://hdl.handle.net/11449/163278; WOS:000410864800217

الاتاحة: http://hdl.handle.net/11449/163278

المؤلفون: Hiatt, Susan, M, Neu, Matthew, B, Ramaker, Ryne, C, Hardigan, Andrew, A, Prokop, Jeremy, W, Hancarova, Miroslava, Prchalova, Darina, Havlovicova, Marketa, Prchal, Jan, Stranecky, Viktor, Yim, Dwight, K C, Powis, Zöe, Keren, Boris, Nava, Caroline, Mignot, Cyril, Rio, Marlene, Revah-Politi, Anya, Hemati, Parisa, Stong, Nicholas, Iglesias, Alejandro, D, Suchy, Sharon, F, Willaert, Rebecca, Wentzensen, Ingrid, M, Wheeler, Patricia, G, Brick, Lauren, Kozenko, Mariya, Hurst, Anna, C E, Wheless, James, W, Lacassie, Yves, Myers, Richard, M, Barsh, Gregory, S, Sedlacek, Zdenek, Cooper, Gregory, M

المساهمون: HudsonAlpha Institute for Biotechnology Huntsville, AL, University of Alabama at Birmingham Birmingham (UAB), Michigan State University East Lansing, Michigan State University System, Univerzita Karlova Praha, Česká republika = Charles University Prague, Czech Republic (UK), University Hospital Motol Prague, University of Chemistry and Technology Prague (UCT Prague), Ambry Genetics Aliso Viejo, CA, USA, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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), Groupe de Recherche Clinique : Génétique des Déficiences Intellectuelles de Causes Rares (associées ou non aux Troubles du Spectre Autistique) (GRC 9), Sorbonne Université (SU), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Columbia University Medical Center (CUMC), Columbia University New York, GeneDx Gaithersburg, MD, USA, McMaster University Hamilton, Ontario, The University of Tennessee Health Science Center Memphis (UTHSC), Louisiana State University (LSU)

المصدر: ISSN: 1553-7390.

مصطلحات موضوعية: MESH: Developmental Disabilities, MESH: Facies, MESH: Mutation, Missense, MESH: Phenotype, MESH: Protein Conformation, MESH: Protein Interaction Domains and Motifs, MESH: ral GTP-Binding Proteins, MESH: ras Proteins, MESH: Genotype, MESH: Guanosine Diphosphate, MESH: Guanosine Triphosphate, MESH: Humans, MESH: Intellectual Disability, MESH: Mitochondrial Proteins, MESH: Models, Molecular, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/30500825; hal-04517713; https://hal.science/hal-04517713; https://hal.science/hal-04517713/document; https://hal.science/hal-04517713/file/document.pdf; PUBMED: 30500825; PUBMEDCENTRAL: PMC6291162

الاتاحة: https://hal.science/hal-04517713
https://hal.science/hal-04517713/document
https://hal.science/hal-04517713/file/document.pdf
https://doi.org/10.1371/journal.pgen.1007671