المؤلفون: Glessner, Joseph T, Ningappa, Mylarappa B, Ngo, Kim A, Zahid, Maliha, So, Juhoon, Higgs, Brandon W, Sleiman, Patrick MA, Narayanan, Tejaswini, Ranganathan, Sarangarajan, March, Michael, Prasadan, Krishna, Vaccaro, Courtney, Reyes-Mugica, Miguel, Velazquez, Jeremy, Salgado, Claudia M, Ebrahimkhani, Mo R, Schmitt, Lori, Rajasundaram, Dhivyaa, Paul, Morgan, Pellegrino, Renata, Gittes, George K, Li, Dong, Wang, Xiang, Billings, Jonathan, Squires, Robert, Ashokkumar, Chethan, Sharif, Khalid, Kelly, Deirdre, Dhawan, Anil, Horslen, Simon, Lo, Cecilia W, Shin, Donghun, Subramaniam, Shankar, Hakonarson, Hakon, Sindhi, Rakesh

المصدر: Journal of Hepatology. 79(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Digestive Diseases, Human Genome, Congenital Structural Anomalies, Prevention, Liver Disease, Infant Mortality, Pediatric, Rare Diseases, Perinatal Period - Conditions Originating in Perinatal Period, Chronic Liver Disease and Cirrhosis, Aetiology, 2.1 Biological and endogenous factors, Child, Animals, Mice, Humans, Biliary Atresia, Genome-Wide Association Study, Genetic Predisposition to Disease, Zebrafish, Canada, Ciliogenesis, Polygenic Susceptibility, Portal Vein, Tube Morphogenesis, Vascular Development, Public Health and Health Services, Gastroenterology & Hepatology, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5rj4d8tvTest

المؤلفون: Sheppard, Sarah E, March, Michael E, Seiler, Christoph, Matsuoka, Leticia S, Kim, Sophia E, Kao, Charlly, Rubin, Adam I, Battig, Mark R, Khalek, Nahla, Schindewolf, Erica, O’Connor, Nora, Pinto, Erin, Priestley, Jessica RC, Sanders, Victoria R, Niazi, Rojeen, Ganguly, Arupa, Hou, Cuiping, Slater, Diana, Frieden, Ilona J, Huynh, Thy, Shieh, Joseph T, Krantz, Ian D, Guerrero, Jessenia C, Surrey, Lea F, Biko, David M, Laje, Pablo, Castelo-Soccio, Leslie, Nakano, Taizo A, Snyder, Kristen, Smith, Christopher L, Li, Dong, Dori, Yoav, Hakonarson, Hakon

المصدر: JCI Insight. 8(9)

مصطلحات موضوعية: Rare Diseases, Pediatric, Animals, Humans, Zebrafish, Proto-Oncogene Proteins p21(ras), Endothelial Cells, Phosphorylation, Mitogen-Activated Protein Kinase Kinases, Zebrafish Proteins, Cardiology, Cardiovascular disease, Genetics, Molecular biology, Molecular genetics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4rz1735gTest

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

المصدر: Li , D , Wang , Q , Bayat , A , Battig , M R , Zhou , Y , Bosch , D G M , van Haaften , G , Granger , L , Petersen , A K , Pérez-Jurado , L A , Aznar-Laín , G , Aneja , A , Hancarova , M , Bendova , S , Schwarz , M , Pourova , R K , Sedlacek , Z , Keena , B A , March , M E , Hou , C , O’Connor , N , Bhoj , E J , Harr ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/88c4a8ca-9fd3-465f-b4a2-f52edc3abaedTest

الإتاحة: https://doi.org/10.1172/JCI171235Test
https://pure.eur.nl/en/publications/88c4a8ca-9fd3-465f-b4a2-f52edc3abaedTest
https://pure.eur.nl/ws/files/126117603/Spliceosome_malfunction_causes_neurodevelopmental_disorders_with_overlapping_features.pdfTest
http://www.scopus.com/inward/record.url?scp=85181539861&partnerID=8YFLogxKTest

المؤلفون: Li, Dong, Sheppard, Sarah, March, Michael, Battig, Mark, Surrey, Lea, Srinivasan, Abhay, Borst, Alexandra, Wang, Fengxiang, Sikder, Tamjeed, O’Connor, Nora, Thomas, Alexandria, Pinto, Erin, Britt, Allison, Napoli, Joseph, Low, David, Vatsky, Seth, Treat, James, Reid, Janet, Smith, Christopher, Snyder, Kristen, Cahill, Anne Marie, Dori, Yoav, Adams, Denise, Hakonarson, Hakon

المصدر: Genetics in Medicine Open ; volume 2, page 101020 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101020Test
https://api.elsevier.com/content/article/PII:S2949774424001663?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424001663?httpAccept=text/plainTest

المؤلفون: Li, Dong, March, Michael E, Fortugno, Paola, Cox, Liza L, Matsuoka, Leticia S, Monetta, Rosanna, Seiler, Christoph, Pyle, Louise C, Bedoukian, Emma C, Sánchez-Soler, María José, Caluseriu, Oana, Grand, Katheryn, Tam, Allison, Aycinena, Alicia RP, Camerota, Letizia, Guo, Yiran, Sleiman, Patrick, Callewaert, Bert, Kumps, Candy, Dheedene, Annelies, Buckley, Michael, Kirk, Edwin P, Turner, Anne, Kamien, Benjamin, Patel, Chirag, Wilson, Meredith, Roscioli, Tony, Christodoulou, John, Cox, Timothy C, Zackai, Elaine H, Brancati, Francesco, Hakonarson, Hakon, Bhoj, Elizabeth J

المصدر: Human Genetics. 140(7)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, 2.1 Biological and endogenous factors, Aetiology, Abnormalities, Multiple, Amino Acid Sequence, Cadherins, Cell Adhesion, Cell Movement, Craniofacial Abnormalities, Female, Foot Deformities, Congenital, Genetic Variation, Hand Deformities, Congenital, Heterozygote, Homozygote, Humans, Hypertelorism, Male, Pedigree, Phenotype, Genetics, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, Reproductive medicine

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6436982tTest

المؤلفون: Bryant, Laura, Li, Dong, Cox, Samuel G, Marchione, Dylan, Joiner, Evan F, Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael E, Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas J, Wadley, Alexandrea, Mancini, Grazia MS, Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather P, Powis, Zoe, Cho, Megan T, Willing, Marcia C, Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia B, Retterer, Kyle, Schuette, Jane L, Innis, Jeffrey W, Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim M, Monaghan, Kristin G, DDD Study, Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer A, Lyons, Michael J, Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine L, Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica H, Õunap, Katrin, Ilves, Pilvi, Innes, A Micheil, Kernohan, Kristin D, Care4Rare Canada Consortium, Costain, Gregory, Meyn, M Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, CAUSES Study, Martin, Martin G, Martinez-Agosto, Julian A, Undiagnosed Diseases Network, Nelson, Stan F, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, Sinsheimer, Janet S, Vilain, Eric, Wan, Jijun, Yoon, Amanda J, Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan M, Gotway, Garrett, Stuurman, KE

المصدر: Science advances. 6(49)

مصطلحات موضوعية: DDD Study, Care4Rare Canada Consortium, CAUSES Study, Undiagnosed Diseases Network, Cancer, Rare Diseases, Human Genome, Pediatric Research Initiative, Genetics, Biotechnology, 2.1 Biological and endogenous factors

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6fw0s88wTest

المؤلفون: Sheppard, Sarah E, Bryant, Laura, Wickramasekara, Rochelle N, Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J, Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Da Silva, Renata Pellegrino, Li, Dong, March, Michael, Diaz-Rosado, Abdias, de Barcelos, Isabella Peixoto, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Joset, Pascal, Steindl, Katharina, Rauch, Anita

المصدر: Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M Celeste; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Da Silva, Renata Pellegrino; Li, Dong; March, Michael; Diaz-Rosado, Abdias; de Barcelos, Isabella Peixoto; Choa, Zhao Xiang; Lim, Chin Yan; Dubourg, Christèle; Journel, Hubert; Demurger, Florence; Mulhern, Maureen; Akman, Cigdem; Lippa, Natalie; Joset, Pascal; Steindl, Katharina; Rauch, Anita; et al (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10):eade1463.

مصطلحات موضوعية: Medical Clinic, Institute of Medical Genetics, Adaptive Brain Circuits in Development and Learning (AdaBD), 570 Life sciences, biology, 610 Medicine & health, Animals, Haploinsufficiency, Humans, Megalencephaly, Methyltransferases / genetics, Mice, Knockout, Neurodevelopmental Disorders* / genetics, Phenotype, Methyltransferases

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/232351/1/sciadv.ade1463.pdfTest; info:pmid/36897941; urn:issn:2375-2548

الإتاحة: https://doi.org/10.5167/uzh-23235110.1126/sciadv.ade1463Test
https://www.zora.uzh.ch/id/eprint/232351Test/
https://www.zora.uzh.ch/id/eprint/232351/1/sciadv.ade1463.pdfTest

المؤلفون: Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Celeste Simon, M., de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Da Silva, Renata Pellegrino, Li, Dong, March, Michael, Diaz-Rosado, Abdias, de Barcelos, Isabella Peixoto, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne Sophie, Weber, Sacha, de la Fuente, Rubén Pérez, del Pozo, Jaime Sánchez, Rosales, Jose Miguel Lezana, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Mau-Them, Frédéric Tran, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., Stessman, Holly A.F.

المصدر: Sheppard , S E , Bryant , L , Wickramasekara , R N , Vaccaro , C , Robertson , B , Hallgren , J , Hulen , J , Watson , C J , Faundes , V , Duffourd , Y , Lee , P , Celeste Simon , M , de la Cruz , X , Padilla , N , Flores-Mendez , M , Akizu , N , Smiler , J , Da Silva , R P , Li , D , March , M , Diaz-Rosado , A , de Barcelos , I P , Choa ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/6d222e2f-b72e-4d41-98ba-7a6d43099fa4Test

الإتاحة: https://doi.org/10.1126/sciadv.ade1463Test
https://pure.eur.nl/en/publications/6d222e2f-b72e-4d41-98ba-7a6d43099fa4Test
https://pure.eur.nl/ws/files/87092930/Mechanism_of_KMT5B_haploinsufficiency_in_neurodevelopment_in_humans_and_mice.pdfTest
http://www.scopus.com/inward/record.url?scp=85150009253&partnerID=8YFLogxKTest

المؤلفون: Glessner, Joseph T., Khan, Munir E., Chang, Xiao, Liu, Yichuan, Otieno, F. George, Lemma, Maria, Slaby, Isabella, Hain, Heather, Mentch, Frank, Li, Jin, Kao, Charlly, Sleiman, Patrick M. A., March, Michael E., Connolly, John, Hakonarson, Hakon

المساهمون: National Human Genome Research Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development

المصدر: Journal of Neurodevelopmental Disorders ; volume 15, issue 1 ; ISSN 1866-1955

مصطلحات موضوعية: Cognitive Neuroscience, Neurology (clinical), Pathology and Forensic Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1186/s11689-023-09483-zTest

المؤلفون: Saeidian, Amir Hossein, Watson, Deborah, Wang, Xiang, Harr, Margaret, Terek, Shannon, March, Michael, Qiu, Haijun, Barcelos, Isabella, Sleiman, Patrick, Glessner, Joseph, Hakonarson, Hakon

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100314 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100314Test
https://api.elsevier.com/content/article/PII:S294977442300314X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S294977442300314X?httpAccept=text/plainTest