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1دورية أكاديمية
المؤلفون: Ferrer, AlejandroAff1, Aff2, Duffy, Patrick, Olson, Rory J., Meiners, Michael A., Schultz-Rogers, Laura, Macke, Erica L., Safgren, Stephanie, Morales-Rosado, Joel A., Cousin, Margot A., Oliver, Gavin R., Rider, David, Williams, Megan, Pichurin, Pavel N., Deyle, David R., Morava, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klass J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica, Kaiwar, Charu, Vitek, Carolyn R., McAllister, Tammy M., Wick, Myra J., Schimmenti, Lisa A.Aff2, Aff7, Aff9, Lazaridis, Konstantinos N.Aff10, Aff2, Vairo, Filippo Pinto eAff2, Aff7, Klee, Eric W.Aff2, Aff7, IDs00439024026643_cor28
المصدر: Human Genetics. 143(5):649-666
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2دورية أكاديمية
المؤلفون: Pinard, Amélie, Ye, Wenlei, Fraser, Stuart M, Rosenfeld, Jill A, Pichurin, Pavel, Hickey, Scott E, Guo, Dongchuan, Cecchi, Alana C, Boerio, Maura L, Guey, Stéphanie, Aloui, Chaker, Lee, Kwanghyuk, Kraemer, Markus, Alyemni, Saleh Omar, Bamshad, Michael J, Nickerson, Deborah A, Tournier-Lasserve, Elisabeth, Haider, Shozeb, Jin, Sheng Chih, Smith, Edward R, Kahle, Kristopher T, Jan, Lily Yeh, He, Mu, Milewicz, Dianna M
مصطلحات موضوعية: Genetics, Clinical Research, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, stroke genetics, smooth muscle cells, genetic heterogeneity, pathogenesis, genotype-phenotype, University of Washington Center for Mendelian Genomics, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/9vx4v2k3
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3دورية أكاديمية
المؤلفون: Neth, Bryan J., Webb, Mason J., White, Jessica, Uhm, Joon H.Aff1, Aff2, Pichurin, Pavel N., Sener, UgurAff1, Aff2, IDs11060023043953_cor6
المصدر: Journal of Neuro-Oncology. 164(1):239-247
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4دورية أكاديمية
المؤلفون: Marta Figueiral, Alessia Paldino, Matheus Wilke, Brendan Lanpher, Ralitza Gavrilova, Karthik Muthusamy, Pavel Pichurin, Radhika Dhamija, Klaas Wierenga, Myra Wick, Lisa Schimmenti, Konstantinos Lazaridis, Eric Klee, Naveen Pereira
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101082- (2024)
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Sheppard, Sarah E, Campbell, Ian M, Harr, Margaret H, Gold, Nina, Li, Dong, Bjornsson, Hans T, Cohen, Julie S, Fahrner, Jill A, Fatemi, Ali, Harris, Jacqueline R, Nowak, Catherine, Stevens, Cathy A, Grand, Katheryn, Au, Margaret, Graham, John M, Sanchez‐Lara, Pedro A, Del Campo, Miguel, Jones, Marilyn C, Abdul‐Rahman, Omar, Alkuraya, Fowzan S, Bassetti, Jennifer A, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D, Derar, Nada, Gripp, Karen W, Hauser, Natalie, Innes, A Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J, Rahbeeni, Zuhair, Ben‐Shachar, Shay, Shieh, Joseph T, Slavotinek, Anne, Sobering, Andrew K, Abbott, Mary‐Alice, Allain, Dawn C, Amlie‐Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A, Cytrynbaum, Cheryl, Chung, Brian Hon‐Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores‐Daboub, Josue A, Dubbs, Holly, Felix, Carolyn A, Fong, Chin‐To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui‐Yan, Jobling, Rebekah K, Johnson, Amy E Knight, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D Ross, Mentch, Frank D, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F, Porazzi, Patrizia, Pichurin, Pavel N, Powell‐Hamilton, Nina N, Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J, Falk, Marni J
المصدر: American Journal of Medical Genetics Part A. 185(6)
مصطلحات موضوعية: Congenital Structural Anomalies, Clinical Research, Brain Disorders, Rare Diseases, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Black People, Constipation, Failure to Thrive, Genetic Association Studies, Genetic Predisposition to Disease, Growth Disorders, Histone-Lysine N-Methyltransferase, Humans, Hypertrichosis, Intellectual Disability, Loss of Function Mutation, Myeloid-Lymphoid Leukemia Protein, Retrospective Studies, White People, hypertrichosis, KMT2A, MLL1, syndromic intellectual disability, syndromic short stature, Wiedemann‐, Steiner syndrome, Wiedemann-Steiner syndrome, Genetics, Clinical Sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0xp4224d
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6دورية أكاديمية
المؤلفون: Sörmann, JaninaAff1, Aff2, Schewe, Marcus, Proks, PeterAff1, Aff2, Jouen-Tachoire, ThibaultAff1, Aff2, Aff4, Aff5, Rao, Shanlin, Riel, Elena B., Agre, Katherine E., Begtrup, Amber, Dean, John, Descartes, Maria, Fischer, Jan, Gardham, Alice, Lahner, Carrie, Mark, Paul R., Muppidi, Srikanth, Pichurin, Pavel N., Porrmann, Joseph, Schallner, Jens, Smith, Kirstin, Straub, Volker, Vasudevan, Pradeep, Willaert, Rebecca, Carpenter, Elisabeth P.Aff5, Aff18, Rödström, Karin E. J., Hahn, Michael G., Müller, Thomas, Baukrowitz, Thomas, Hurles, Matthew E., Wright, Caroline F.Aff21, IDs4158802201185x_cor29, Tucker, Stephen J.Aff1, Aff2, Aff5, IDs4158802201185x_cor30
المصدر: Nature Genetics. 54(10):1534-1543
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7دورية أكاديمية
المؤلفون: Johnson, Brett V, Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, Billette de Villemeur, Thierry, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A, VanHasselt, Peter M, Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pena, Loren, Shashi, Vandana, Undiagnosed Diseases Network, Schoch, Kelly, Sullivan, Jennifer A, Pinto E Vairo, Filippo, Pichurin, Pavel N, Ewing, Sarah A, Barnett, Sarah S, Klee, Eric W, Perry, M Scott, Koenig, Mary Kay, Keegan, Catherine E, Schuette, Jane L, Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D, Rosenfeld, Jill A, Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E, Steeves, Marcie A, Hollander, Nicolette den, Hoffer, Mariëtte JV, Reijnders, Margot RF, Demirdas, Serwet, Koboldt, Daniel C, Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E, Shieh, Christine, Sanchez-Lara, Pedro A, Graham, John M, Tezcan, Kamer, Schaefer, GB, Danylchuk, Noelle R, Asamoah, Alexander, Jackson, Kelly E, Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A, Kleefstra, Tjitske
المصدر: Biological psychiatry. 87(2)
مصطلحات موضوعية: Undiagnosed Diseases Network, Animals, Humans, Mice, Ubiquitin Thiolesterase, Transforming Growth Factor beta, Developmental Disabilities, Signal Transduction, Phenotype, Female, Male, Haploinsufficiency, Intellectual Disability, Brain malformation, Deubiquitylating enzyme, Hippocampus, Neurodevelopmental disorder, TGFβ, USP9X, Congenital Structural Anomalies, Genetics, Neurosciences, Pediatric, Mental Health, Behavioral and Social Science, Brain Disorders, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Neurological, TGF beta, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/7rc8p7tf
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8دورية أكاديمية
المؤلفون: Roman Thaler, Farzaneh Khani, Ines Sturmlechner, Sharareh S. Dehghani, Janet M. Denbeigh, Xianhu Zhou, Oksana Pichurin, Amel Dudakovic, Sofia S. Jerez, Jian Zhong, Jeong-Heon Lee, Ramesh Natarajan, Ivo Kalajzic, Yong-hui Jiang, David R. Deyle, Eleftherios P. Paschalis, Barbara M. Misof, Tamas Ordog, Andre J. van Wijnen
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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9دورية أكاديمية
المؤلفون: Amel Dudakovic, Sofia Jerez, Padmini J. Deosthale, Janet M. Denbeigh, Christopher R. Paradise, Martina Gluscevic, Pengfei Zan, Dana L. Begun, Emily T. Camilleri, Oksana Pichurin, Farzaneh Khani, Roman Thaler, Jane B. Lian, Gary S. Stein, Jennifer J. Westendorf, Lilian I. Plotkin, Andre J. van Wijnen
المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-18 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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10دورية أكاديمية
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