المؤلفون: Huang, Yue, Grand, Katheryn, Kimonis, Virginia, Butler, Merlin G, Jain, Suparna, Huang, Alden Yen-Wen, Martinez-Agosto, Julian A, Nelson, Stanley F, Sanchez-Lara, Pedro A

المصدر: Journal of Medical Genetics. 59(7)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Congenital Structural Anomalies, Obesity, Clinical Research, Human Genome, Pediatric, Brain Disorders, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Child, Female, Humans, Chromosomes, Human, Pair 15, DNA, DNA Methylation, Genomic Imprinting, Mouth Mucosa, Prader-Willi Syndrome, snRNP Core Proteins, Polymorphism, Single Nucleotide, imprinting, point mutation, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2k99x00b

المؤلفون: Markush, Dor^{Aff1, Aff2, IDs00246022030893_cor1}, Sanchez-Lara, Pedro A.^{Aff2, Aff3}, Grand, Katheryn^{Aff2, Aff3}, Wong, Robert, Garg, Ruchira^{Aff1, Aff2}

المصدر: Pediatric Cardiology. 44(4):946-950

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

المؤلفون: Biesecker, Leslie G, Adam, Margaret P, Alkuraya, Fowzan S, Amemiya, Anne R, Bamshad, Michael J, Beck, Anita E, Bennett, James T, Bird, Lynne M, Carey, John C, Chung, Brian, Clark, Robin D, Cox, Timothy C, Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B, Giampietro, Philip F, Girisha, Katta M, Glass, Ian A, Graham, John M, Gripp, Karen W, Haldeman-Englert, Chad R, Hall, Bryan D, Innes, A Micheil, Kalish, Jennifer M, Keppler-Noreuil, Kim M, Kosaki, Kenjiro, Kozel, Beth A, Mirzaa, Ghayda M, Mulvihill, John J, Nowaczyk, Malgorzata JM, Pagon, Roberta A, Retterer, Kyle, Rope, Alan F, Sanchez-Lara, Pedro A, Seaver, Laurie H, Shieh, Joseph T, Slavotinek, Anne M, Sobering, Andrew K, Stevens, Cathy A, Stevenson, David A, Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C, Weaver, David D, Williams, Marc S, Zackai, Elaine, Zarate, Yuri A

المصدر: American Journal of Human Genetics. 108(1)

مصطلحات موضوعية: Rare Diseases, Genetics, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Diseases, Inborn, Genomics, Genotype, Humans, Mutation, Phenotype, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/14k5b9qx

المؤلفون: Hallgrímsson, Benedikt, Aponte, J, Katz, David, Bannister, Jordan, Riccardi, Sheri, Mahasuwan, Nick, McInnes, Brenda, Ferrara, Tracey, Lipman, Danika, Neves, Amanda, Spitzmacher, Jared, Larson, Jacinda, Bellus, Gary, Pham, Anh, Aboujaoude, Elias, Benke, Timothy, Chatfield, Kathryn, Davis, Shanlee, Elias, Ellen, Enzenauer, Robert, French, Brooke, Pickler, Laura, Shieh, Joseph, Slavotinek, Anne, Harrop, A, Innes, A, McCandless, Shawn, McCourt, Emily, Meeks, Naomi, Tartaglia, Nicole, Tsai, Anne, Wyse, J, Bernstein, Jonathan, Sanchez-Lara, Pedro, Forkert, Nils, Bernier, Francois, Spritz, Richard, Klein, Ophir

المصدر: Genetics in Medicine. 22(10)

مصطلحات موضوعية: deep phenotyping, diagnosis, facial imaging, morphometrics, syndromes, Face, Humans, Imaging, Three-Dimensional, Syndrome

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9fz518xk

المؤلفون: Xie, Lingling^{Aff1, Aff13}, McDaniel, Miranda J., Perszyk, Riley E., Kim, Sukhan^{Aff1, Aff2}, Cappuccio, Gerarda^{Aff3, Aff14, Aff15}, Shapiro, Kevin A., Muñoz-Cabello, Beatriz, Sanchez-Lara, Pedro A., Grand, Katheryn, Zhang, Jing, Nocilla, Kelsey A., Sheikh, Rehan, Armengol, Lluis, Romano, Roberta, Pierson, Tyler Mark^{Aff8, Aff9, Aff10, Aff11}, Yuan, Hongjie^{Aff1, Aff2}, Myers, Scott J.^{Aff1, Aff2}, Traynelis, Stephen F.^{Aff1, Aff2, Aff12, IDs0001802304705y_cor18}

المصدر: Cellular and Molecular Life Sciences. 80(4)

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

المؤلفون: Sanchez-Lara, Pedro A.^Aff2, Nathanson, Joseph^Aff3, Valentino, Leonard A.^{Aff4, Aff5}

المساهمون: Rodríguez-Merchán, E. Carlos, editor^Aff1

المصدر: Advances in Hemophilia Treatment : From Genetics to Joint Health. :155-165

المؤلفون: Sanchez-Lara, Pedro A.^Aff2, Valentino, Leonard A.^{Aff3, Aff4}

المساهمون: Rodríguez-Merchán, E. Carlos, editor^Aff1

المصدر: Advances in Hemophilia Treatment : From Genetics to Joint Health. :11-17

المؤلفون: Kim, Romina^{Aff1, IDs00467022057888_cor1}, Ye, XinYi, Sanchez-Lara, Pedro A., Puliyanda, Dechu, Kumar, Sanjeev, Pizzo, Helen

المصدر: Pediatric Nephrology: Journal of the InternationalPediatric Nephrology Association. :1-3