المؤلفون: de Fallois, Jonathan, Schönauer, Ria, Münch, Johannes, Nagel, Mato, Popp, Bernt, Halbritter, Jan

مصطلحات موضوعية: PKD1, PKHD1, ADPKD, ARPKD, cystic kidneys, chronic kidney disease, info:eu-repo/classification/ddc/570, ddc:570

Relation: 682565

الاتاحة: https://ul.qucosa.de/id/qucosa%3A84286
https://ul.qucosa.de/api/qucosa%3A84286/attachment/ATT-0/

المؤلفون: Popp, Bernt, Ekici, Arif, Knaup, Karl, Schneider, Karen, Uebe, Steffen, Park, Jonghun, Bafna, Vineet, Meiselbach, Heike, Eckardt, Kai-Uwe, Schiffer, Mario, Reis, André, Kraus, Cornelia, Wiesener, Michael

المصدر: European Journal of Human Genetics. 30(12)

مصطلحات موضوعية: Humans, Prevalence, Nephritis, Hereditary, Nephritis, Interstitial, Renal Insufficiency, Chronic, Mutation

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/98q5n7mk
https://escholarship.org/content/qt98q5n7mk/qt98q5n7mk.pdf

المؤلفون: Park, Jonghun, Bakhtiari, Mehrdad, Popp, Bernt, Wiesener, Michael, Bafna, Vineet

المصدر: iScience. 25(8)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, 2.1 Biological and endogenous factors, Genomics, Human genetics, Molecular genetics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/09j1x0j8
https://escholarship.org/content/qt09j1x0j8/qt09j1x0j8.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: Gehin, Charlotte, Lone, Museer A, Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M, Gerkes, Erica H, Stegmann, Alexander Pa, López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R, Zamuner, Stefano, Abriata, Luciano A, Kunnathully, Vidya, Moeller, Brandon E, Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W, Pfundt, Rolph, Willemsen, Marjolein H, Schieving, Jolanda H, Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R, Beier, Christoph P, Larsen, Martin J, Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S, Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis Br, Bain, Jennifer M, Bhat, Musadiq A, Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L, Friez, Michael J, Richardson, Ellen B, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Gupta, Yask, Lim, Tze Y, Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E, Jakšić, Ana Marija, McCabe, Brian D, De Los Rios, Paolo, Hornemann, Thorsten, D'Angelo, Giovanni, Gennarino, Vincenzo A

المساهمون: Gehin, Charlotte, Lone, Museer A, Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M, Gerkes, Erica H, Stegmann, Alexander Pa, López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R, Zamuner, Stefano, Abriata, Luciano A, Kunnathully, Vidya, Moeller, Brandon E, Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W, Pfundt, Rolph, Willemsen, Marjolein H, Schieving, Jolanda H, Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R, Beier, Christoph P, Larsen, Martin J, Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluí, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S, Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis Br, Bain, Jennifer M, Bhat, Musadiq A, Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L, Friez, Michael J, Richardson, Ellen B, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Gupta, Yask, Lim, Tze Y, Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E, Jakšić, Ana Marija, Mccabe, Brian D, De Los Rios, Paolo, Hornemann, Thorsten, D'Angelo, Giovanni, Gennarino, Vincenzo A

مصطلحات موضوعية: Cell Biology, Genetic, Lipid raft, Neurodevelopment

Relation: info:eu-repo/semantics/altIdentifier/pmid/36976648; info:eu-repo/semantics/altIdentifier/wos/WOS:000998178800003; journal:THE JOURNAL OF CLINICAL INVESTIGATION; https://hdl.handle.net/11577/3479047; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85159733545

الاتاحة: https://hdl.handle.net/11577/3479047
https://doi.org/10.1172/JCI165019

المؤلفون: Jauss, Robin-Tobias¹ (AUTHOR) Robin-Tobias.Jauss@medizin.uni-leipzig.de, Popp, Bernt^1,2 (AUTHOR), Bachmann, Joachim¹ (AUTHOR), Abou Jamra, Rami¹ (AUTHOR), Platzer, Konrad¹ (AUTHOR)

المصدر: Human Genetics. Dec2024, Vol. 143 Issue 12, p1459-1463. 5p.

مصطلحات موضوعية: *RARE diseases, *GENES, *LOGIC, *DATABASES

المؤلفون: Bosch, Elisabeth, Popp, Bernt, Güse, Esther, Skinner, Cindy, van der Sluijs, Pleuntje J., Maystadt, Isabelle, Pinto, Anna Maria, Renieri, Alessandra, Bruno, Lucia Pia, Granata, Stefania, Marcelis, Carlo, Baysal, Özlem, Hartwich, Dewi, Holthöfer, Laura, Isidor, Bertrand, Cogne, Benjamin, Wieczorek, Dagmar, Capra, Valeria, Scala, Marcello, de Marco, Patrizia, Ognibene, Marzia, Jamra, Rami Abou, Platzer, Konrad, Carter, Lauren B., Kuismin, Outi, van Haeringen, Arie, Maroofian, Reza, Valenzuela, Irene, Cuscó, Ivon, Martinez-Agosto, Julian A., Rabani, Ahna M., Mefford, Heather C., Pereira, Elaine M., Close, Charlotte, Anyane-Yeboa, Kwame, Wagner, Mallory, Hannibal, Mark C., Zacher, Pia, Thiffault, Isabelle, Beunders, Gea, Umair, Muhammad, Bhola, Priya T., McGinnis, Erin, Millichap, John, van de Kamp, Jiddeke M., Prijoles, Eloise J., Dobson, Amy, Shillington, Amelle, Graham, Brett H., Garcia, Evan-Jacob, Galindo, Maureen Kelly, Ropers, Fabienne G., Nibbeling, Esther A. R., Hubbard, Gail, Karimov, Catherine, Goj, Guido, Bend, Renee, Rath, Julie, Morrow, Michelle M., Millan, Francisca, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Kurki, Mitja, Stevenson, Roger E., Santen, Gijs W. E., Zweier, Markus, Campeau, Philippe M., Severino, Mariasavina, Reis, André, Accogli, Andrea, Vasileiou, Georgia

المصدر: Bosch , E , Popp , B , Güse , E , Skinner , C , van der Sluijs , P J , Maystadt , I , Pinto , A M , Renieri , A , Bruno , L P , Granata , S , Marcelis , C , Baysal , Ö , Hartwich , D , Holthöfer , L , Isidor , B , Cogne , B , Wieczorek , D , Capra , V , Scala , M , de Marco , P , Ognibene , M , Jamra , R A , Platzer , K , ....

الاتاحة: https://research.vumc.nl/en/publications/47b00604-c0fa-431e-b4dc-67690fdf85b9
https://doi.org/10.1016/j.gim.2023.100950
http://www.scopus.com/inward/record.url?scp=85173555062&partnerID=8YFLogxK

المؤلفون: van Jaarsveld, Richard H., Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A., Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Bellanger, Severine Audebert, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C., Ciolfi, Andrea, van Essen, Ton A. J., Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M., Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A., Lewis, M. E. Suzanne, Lichty, Angie, Mannens, Marcel M. A. M., Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A., Yosovich, Keren, Yuskaitis, Christopher J., Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske

المصدر: van Jaarsveld , R H , Reilly , J , Cornips , M-C , Hadders , M A , Agolini , E , Ahimaz , P , Anyane-Yeboa , K , Bellanger , S A , van Binsbergen , E , van den Boogaard , M-J , Brischoux-Boucher , E , Caylor , R C , Ciolfi , A , van Essen , T A J , Fontana , P , Hopman , S , Iascone , M , Javier , M M , Kamsteeg , E-J , Kerkhof , J , Kido , J , Kim , H-G ....

الاتاحة: https://research.vumc.nl/en/publications/3b04e7e5-7564-479a-aa70-2dd1d5f307dd
https://doi.org/10.1016/j.gim.2022.09.006
http://www.scopus.com/inward/record.url?scp=85141320488&partnerID=8YFLogxK

المؤلفون: Naschberger, Elisabeth, Fuchs, Maximilian, Dickel, Nicholas, Kunz, Meik, Popp, Bernt, Anchang, Charles Gwellem, Demmler, Richard, Lyu, Yanmin, Uebe, Steffen, Ekici, Arif Bülent, Geppert, Carol Immanuel, Hartmann, Arndt, Flierl, Christian, Petter, Katja, Gass, Tobias, Völkl, Simon, Scharl, Michael, Ramming, Andreas, Günther, Claudia, Merkel, Susanne, Schellerer, Vera Simone, Stürzl, Michael

المصدر: Naschberger, Elisabeth; Fuchs, Maximilian; Dickel, Nicholas; Kunz, Meik; Popp, Bernt; Anchang, Charles Gwellem; Demmler, Richard; Lyu, Yanmin; Uebe, Steffen; Ekici, Arif Bülent; Geppert, Carol Immanuel; Hartmann, Arndt; Flierl, Christian; Petter, Katja; Gass, Tobias; Völkl, Simon; Scharl, Michael; Ramming, Andreas; Günther, Claudia; Merkel, Susanne; Schellerer, Vera Simone; Stürzl, Michael (2023). Tumor microenvironment-dependent epigenetic imprinting in the vasculature predicts colon cancer outcome. Cancer Communications, 43(11):1280-1285.

مصطلحات موضوعية: Clinic for Gastroenterology and Hepatology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/254269/1/ZORA_254269.pdf; info:pmid/37859581; urn:issn:2523-3548

الاتاحة: https://www.zora.uzh.ch/id/eprint/254269/
https://www.zora.uzh.ch/id/eprint/254269/1/ZORA_254269.pdf
https://doi.org/10.1002/cac2.12489

المؤلفون: Rieger, Melissa, Moutton, Sébastien, Verheyen, Sarah, Steindl, Katharina, Popp, Bernt, Leheup, Bruno, Bonnet, Céline, Oneda, Beatrice, Rauch, Anita, Reis, André, Krumbiegel, Mandy, Hüffmeier, Ulrike

المصدر: Rieger, Melissa; Moutton, Sébastien; Verheyen, Sarah; Steindl, Katharina; Popp, Bernt; Leheup, Bruno; Bonnet, Céline; Oneda, Beatrice; Rauch, Anita; Reis, André; Krumbiegel, Mandy; Hüffmeier, Ulrike (2023). Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay. European Journal of Medical Genetics, 66(1):104669.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics (clinical), Genetics, General Medicine, deletion, 19p13.11p12, NDD, malformation, MAU2, GDF1 19p13.11p12, GDF1

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/223075/1/1_s2.0_S1769721222002506_main.pdf; https://www.zora.uzh.ch/id/eprint/223075/4/1_s2.0_S1769721222002506_mmc1.pdf; info:pmid/36379434; urn:issn:1769-7212

الاتاحة: https://www.zora.uzh.ch/id/eprint/223075/
https://www.zora.uzh.ch/id/eprint/223075/1/1_s2.0_S1769721222002506_main.pdf
https://www.zora.uzh.ch/id/eprint/223075/4/1_s2.0_S1769721222002506_mmc1.pdf
https://doi.org/10.1016/j.ejmg.2022.104669

المؤلفون: van Jaarsveld, Richard H, Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A, Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Bellanger, Severine Audebert, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C, Ciolfi, Andrea, van Essen, Ton A J, Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M, Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A, Lewis, M E Suzanne, Lichty, Angie, Mannens, Marcel M A M, Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A, Yosovich, Keren, Yuskaitis, Christopher J, Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske

المساهمون: Genetica Sectie Genoomdiagnostiek, CMM Groep Lens, Cancer, Child Health, Genetica Klinische Genetica, Brain

مصطلحات موضوعية: Human Genetics, KDM2B, MDEMs, Methylation signatures, Neurodevelopmental disorders, Genetics(clinical), Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/447389

الاتاحة: https://dspace.library.uu.nl/handle/1874/447389

المؤلفون: Lee, Sunwoo, Menzies, Lara, Hay, Eleanor, Ochoa, Eguzkine, Docquier, France, Rodger, Fay, Deshpande, Charu, Foulds, Nicola C., Jacquemont, Sébastien, Jizi, Khadije, Kiep, Henriette, Kraus, Alison, Löhner, Katharina, Morrison, Patrick J., Popp, Bernt, Richardson, Ruth, Haeringen, Arie, Martin, Ezequiel, Toribio, Ana, Li, Fudong, Jones, Wendy D., Sansbury, Francis H., Maher, Eamonn R.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/161283/8/ddad079.pdf; Lee, Sunwoo, Menzies, Lara, Hay, Eleanor, Ochoa, Eguzkine, Docquier, France, Rodger, Fay, Deshpande, Charu, Foulds, Nicola C., Jacquemont, Sébastien, Jizi, Khadije, Kiep, Henriette, Kraus, Alison, Löhner, Katharina, Morrison, Patrick J., Popp, Bernt, Richardson, Ruth, Haeringen, Arie, Martin, Ezequiel, Toribio, Ana, Li, Fudong, Jones, Wendy D., Sansbury, Francis H. https://orca.cardiff.ac.uk/view/cardiffauthors/A2408671B.html and Maher, Eamonn R. 2023. Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders. Human Molecular Genetics 32 (22) , pp. 3123-3134. 10.1093/hmg/ddad079 https://doi.org/10.1093/hmg%2Fddad079 file https://orca.cardiff.ac.uk/id/eprint/161283/8/ddad079.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/161283/
https://doi.org/10.1093/hmg/ddad079
https://orca.cardiff.ac.uk/id/eprint/161283/8/ddad079.pdf

المؤلفون: Schönauer, Ria, Sierks, Dana, Boerrigter, Melissa, Jawaid, Tabinda, Caroff, Lea, Audrezet, Marie-Pierre, Friedrich, Anja, Shaw, Melissa, Degenhardt, Jan, Forberger, Mirjam, de Fallois, Jonathan, Bläker, Hendrik, Bergmann, Carsten, Gödiker, Juliana, Schindler, Philipp, Schlevogt, Bernhard, Müller, Null-, U, Berg, Thomas, Patterson, Ilse, Griffiths, William, J, Sayer, John, A, Popp, Bernt, Torres, Vicente, E, Hogan, Marie, C, Somlo, Stefan, Watnick, Terry, J, Nevens, Frederik, Besse, Whitney, Cornec-Le Gall, Emilie, Harris, Peter, C, Drenth, Joost, P H, Halbritter, Jan, Ambrose, John, C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher, R, Brittain, Helen, Caulfield, Mark, J, Chan, Georgia, C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim, J P, Jackson, Rob, Jones, Louise, J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah, E A, Leong, Ivonne, U S, Lopez, Javier, F, Maleady-Crowe, Fiona, Mcentagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna, C, O’donovan, Peter, Odhams, Chris, A, Patch, Christine, Pereira, Mariana, Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard, H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel, C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana, Lisa, Thomas, Ellen, R A, Thompson, Simon, R, Tucci, Arianna, Welland, Matthew, J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne, M

المساهمون: University Hospital Leipzig = Universitätsklinikum Leipzig, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), University Hospital Freiburg, Karlsruhe Institute of Technology = Karlsruher Institut für Technologie (KIT)

المصدر: ISSN: 0016-5085.

مصطلحات موضوعية: ADPKD, autosomal dominant polycystic kidney disease ADPLD, autosomal dominant polycystic liver disease CT, computed tomography HR, hazard ratio MIM, Mendelian Inheritance in Man MRI, magnetic resonance imaging PG, progression group nTLV, normalized total liver volume, autosomal dominant polycystic kidney disease, ADPLD, autosomal dominant polycystic liver disease, CT, computed tomography, HR, hazard ratio, MIM, Mendelian Inheritance in Man, MRI, magnetic resonance imaging, PG, progression group, nTLV, [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04503087
https://hal.science/hal-04503087v1/document
https://hal.science/hal-04503087v1/file/1-s2.0-S0016508523056032-main.pdf
https://doi.org/10.1053/j.gastro.2023.12.007

المؤلفون: Lehmann, Claudia, Pehnke, Sarah, Weimann, Antje, Bachmann, Anette, Dittrich, Katalin, Petzold, Friederike, Fürst, Daniel, de Fallois, Jonathan, Landgraf, Ramona, Henschler, Reinhard, Lindner, Tom H., Halbritter, Jan, Doxiadis, Ilias, Popp, Bernt, Münch, Johannes

المصدر: Frontiers in Immunology ; volume 14 ; ISSN 1664-3224

الاتاحة: http://dx.doi.org/10.3389/fimmu.2023.1094862
https://www.frontiersin.org/articles/10.3389/fimmu.2023.1094862/full

المؤلفون: Schönauer, Ria, Jin, Wenjun, Findeisen, Christin, Valenzuela, Irene, Devlin, Laura Alice, Murrell, Jill, Bedoukian, Emma C., Pöschla, Linda, Hantmann, Elena, Riedhammer, Korbinian M., Hoefele, Julia, Platzer, Konrad, Biemann, Ronald, Campeau, Philipp M., Münch, Johannes, Heyne, Henrike, Hoffmann, Anne, Ghosh, Adhideb, Sun, Wenfei, Dong, Hua, Noé, Falko, Wolfrum, Christian, Woods, Emily, Parker, Michael J., Neatu, Ruxandra, Le Guyader, Gwenael, Bruel, Ange-Line, Perrin, Laurence, Spiewak, Helena, Missotte, Isabelle, Fourgeaud, Melanie, Michaud, Vincent, Lacombe, Didier, Paolucci, Sarah A., Buchan, Jillian G., Glissmeyer, Margaret, Popp, Bernt, Blüher, Matthias, Sayer, John A., Halbritter, Jan

المصدر: The American Journal of Human Genetics ; volume 110, issue 6, page 998-1007 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2023.04.010
https://api.elsevier.com/content/article/PII:S000292972300157X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S000292972300157X?httpAccept=text/plain

المؤلفون: van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O’Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael

المصدر: Genetics in Medicine ; volume 25, issue 2, page 100004 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1016/j.gim.2022.100004
https://api.elsevier.com/content/article/PII:S1098360022010711?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022010711?httpAccept=text/plain

المؤلفون: Schröter, Julian, Dattner, Tal, Hüllein, Jennifer, Jayme, Alejandra, Heuveline, Vincent, Hoffmann, Georg F., Kölker, Stefan, Lenz, Dominic, Opladen, Thomas, Popp, Bernt, Schaaf, Christian P., Staufner, Christian, Syrbe, Steffen, Uhrig, Sebastian, Hübschmann, Daniel, Brennenstuhl, Heiko

المساهمون: Deutsche Forschungsgemeinschaft, Universität Heidelberg, Dietmar Hopp Stiftung

المصدر: Computational and Structural Biotechnology Journal ; volume 21, page 1077-1083 ; ISSN 2001-0370

الاتاحة: http://dx.doi.org/10.1016/j.csbj.2023.01.027
https://api.elsevier.com/content/article/PII:S2001037023000235?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2001037023000235?httpAccept=text/plain

المؤلفون: Mammadova, Dilbar, Kraus, Cornelia, Leis, Thomas, Popp, Bernt, Zweier, Christiane, Reis, Andre, Trollmann, Regina

المصدر: Frontiers in Neurology; 2024, p1-8, 8p

مصطلحات موضوعية: MIGRAINE aura, EPILEPSY, GENETIC variation, PHENOTYPIC plasticity, OPTIC nerve

المؤلفون: Rahimi, Meer Jacob, Urban, Nicole, Wegler, Meret, Sticht, Heinrich, Schaefer, Michael, Popp, Bernt, Gaunitz, Frank, Morleo, Manuela, Nigro, Vincenzo, Maitz, Silvia, Mancini, Grazia M.S., Ruivenkamp, Claudia, Suk, Eun Kyung, Bartolomaeus, Tobias, Merkenschlager, Andreas, Koboldt, Daniel, Bartholomew, Dennis, Stegmann, Alexander P.A., Sinnema, Margje, Duynisveld, Irma, Salvarinova, Ramona, Race, Simone, de Vries, Bert B.A., Trimouille, Aurélien, Naudion, Sophie, Marom, Daphna, Hamiel, Uri, Henig, Noa, Demurger, Florence, Rahner, Nils, Bartels, Enrika, Hamm, J. Austin, Putnam, Abbey M., Person, Richard, Abou Jamra, Rami, Oppermann, Henry

المصدر: Rahimi , M J , Urban , N , Wegler , M , Sticht , H , Schaefer , M , Popp , B , Gaunitz , F , Morleo , M , Nigro , V , Maitz , S , Mancini , G M S , Ruivenkamp , C , Suk , E K , Bartolomaeus , T , Merkenschlager , A , Koboldt , D , Bartholomew , D , Stegmann , A P A , Sinnema , M , Duynisveld , I , Salvarinova , R , Race , S , de Vries , B B ....

الاتاحة: https://pure.eur.nl/en/publications/5df7e1bb-41a3-4c8b-aead-ce0282a22637
https://doi.org/10.1016/j.ajhg.2022.03.009
http://www.scopus.com/inward/record.url?scp=85129366875&partnerID=8YFLogxK
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9118097/

المؤلفون: van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O'Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael, Giordano, Jessica L., Wapner, Ronald J., Rosenfeld, Jill A., Haak, Monique C., Santen, Gijs W.E.

المصدر: van der Sluijs , P J , Joosten , M , Alby , C , Attié-Bitach , T , Gilmore , K , Dubourg , C , Fradin , M , Wang , T , Kurtz-Nelson , E C , Ahlers , K P , Arts , P , Barnett , C P , Ashfaq , M , Baban , A , van den Born , M , Borrie , S , Busa , T , Byrne , A , Carriero , M , Cesario , C , Chong , K , Cueto-González , A M , Dempsey , ....

الاتاحة: https://pure.eur.nl/en/publications/2accdc59-2152-4691-8b7a-11dd29e7a796
https://doi.org/10.1016/j.gim.2022.04.010
http://www.scopus.com/inward/record.url?scp=85130377668&partnerID=8YFLogxK