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1دورية 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
الوصول الحر: https://escholarship.org/uc/item/7rc8p7tfTest
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2دورية أكاديمية
المؤلفون: Török, Ferenc, Tezcan, Kamer, Filippini, Ludovica, Fernández-Quintero, Monica L, Zanetti, Lucia, Liedl, Klaus R, Drexel, Raphaela S, Striessnig, Jörg, Ortner, Nadine J
المساهمون: University of Innsbruck, Austrian Science Fund
المصدر: Human Molecular Genetics ; volume 32, issue 5, page 847-859 ; ISSN 0964-6906 1460-2083
مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine
الإتاحة: https://doi.org/10.1093/hmg/ddac248Test
https://academic.oup.com/hmg/article-pdf/32/5/847/49283172/ddac248.pdfTest -
3دورية أكاديمية
المؤلفون: Török, Ferenc, Tezcan, Kamer, Filippini, Ludovica, Fernández-Quintero, Monica L, Zanetti, Lucia, Liedl, Klaus R, Drexel, Raphaela S, Striessnig, Jörg, Ortner, Nadine J
المصدر: Human Molecular Genetics; Mar2023, Vol. 32 Issue 5, p847-859, 13p
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4دورية أكاديمية
المؤلفون: Saunier, Chloé, Støve, Svein Isungset, Popp, Bernt, Gérard, Bénédicte, Blenski, Marina, Ahmew, Nicholas, de Bie, Charlotte, Goldenberg, Paula, Isidor, Bertrand, Keren, Boris, Leheup, Bruno, Lampert, Laetitia, Mignot, Cyril, Tezcan, Kamer, Mancini, Grazia M.S., Nava, Caroline, Wasserstein, Melissa, Bruel, Ange-Line, Thevenon, Julien, Masurel, Alice, Duffourd, Yannis, Kuentz, Paul, Huet, Frédéric, Rivière, Jean-Baptiste, van Slegtenhorst, Marjon, Faivre, Laurence, Piton, Amélie, Reis, André, Arnesen, Thomas, Thauvin-Robinet, Christel, Zweier, Christiane
المساهمون: Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de pédiatrie (CHU de Dijon), Department of Molecular Biology, University of Bergen (UiB), Dpt of Surgery Bergen, Haukeland University Hospital, University of Bergen (UiB)-University of Bergen (UiB), Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg (FAU), Laboratoire de Génétique Moléculaire CHRU Strasbourg, CHRU Strasbourg, Division of Genetics & Metabolism, Children's National Medical Center, Dpt of Genetics Utrecht, University Medical Center Utrecht, Massachusetts General Hospital Boston, Service de génétique médicale - Unité de génétique clinique Nantes, Université de Nantes (UN)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique Médicale CHRU Nancy, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Kaiser Permanente, Erasmus University Medical Center Rotterdam (Erasmus MC), Dpts of Genetics and Genomic Sciences and Pediatrics New York, Icahn School of Medicine at Mount Sinai New York (MSSM), Université de Bourgogne (UB), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Laboratoire de génétique moléculaire (hôpital général, CHU Dijon), Hôpital général (CHU Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)
المصدر: ISSN: 1059-7794.
مصطلحات موضوعية: Contract grant sponsors: Dijon University Hospital, Regional Council of Burgundy, KEY WORDS: NAA10, X-linked, intellectual disability, N-terminal acetylation, [SDV.GEN]Life Sciences [q-bio]/Genetics
العلاقة: hal-01314294; https://hal.sorbonne-universite.fr/hal-01314294Test; https://hal.sorbonne-universite.fr/hal-01314294/documentTest; https://hal.sorbonne-universite.fr/hal-01314294/file/humu23001.pdfTest
الإتاحة: https://doi.org/10.1002/humu.23001Test
https://hal.sorbonne-universite.fr/hal-01314294Test
https://hal.sorbonne-universite.fr/hal-01314294/documentTest
https://hal.sorbonne-universite.fr/hal-01314294/file/humu23001.pdfTest -
5دورية أكاديمية
المؤلفون: Schnur, Rhonda E., Gao, Mei, Wick, Penelope A., Keller, Margaret, Benke, Paul J., Edwards, Matthew J., Grix, Arthur W., Hockey, Athel, Jung, Jack H., Kidd, Kenneth K., Kistenmacher, Mildred, Levin, Alex V., Lewis, Richard A., Musarella, Maria A., Nowakowski, Rod W., Orlow, Seth J., Pagon, Roberta S., Pillers, De-Ann M., Punnett, Hope H., Quinn, Graham E., Tezcan, Kamer, Wagstaff, Joseph, Weleber, Richard G.
المصدر: The American Journal of Human Genetics ; volume 62, issue 4, page 800-809 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1086/301776Test
https://api.elsevier.com/content/article/PII:S0002929707609719?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707609719?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Grams, Sarah E., Argiropoulos, Bob, Lines, Matthew, Chakraborty, Pranesh, Mcgowan‐Jordan, Jean, Geraghty, Michael T., Tsang, Marilyn, Eswara, Marthand, Tezcan, Kamer, Adams, Kelly L., Linck, Leesa, Himes, Patricia, Kostiner, Dana, Zand, Dina J., Stalker, Heather, Driscoll, Daniel J., Huang, Taosheng, Rosenfeld, Jill A., Li, Xu, Chen, Emily
المصدر: American Journal of Medical Genetics Part A ; volume 170, issue 4, page 967-977 ; ISSN 1552-4825 1552-4833
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7كتاب
المؤلفون: Tezcan, Kamer, Louie, Kristal T., Qu, Yong, Velasquez, Jorge, Zaldivar, Frank, Rioseco-Camacho, Natalia, Camacho, José Angel
المصدر: JIMD Reports ; JIMD Reports - Case and Research Reports, 2011/3 ; page 97-102 ; ISSN 2192-8304 2192-8312 ; ISBN 9783642249358 9783642249365
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8دورية أكاديمية
المؤلفون: Milunsky, Jeff M, Maher, Tom M, Zhao, Geping P, Wang, Zhenyuan, Mulliken, John B, Chitayat, David, Clemens, Michele, Stalker, Heather J, Bauer, Mislen, Burch, Michele, Chenier, Sébastien, Cunningham, Michael L, Drack, Arlene V, Janssens, Sandra, Karlea, Audrey, Klatt, Regan, Kini, Usha, Klein, Ophir, Lachmeijer, Augusta M, Megarbane, Andre, Mendelsohn, Nancy J, Meschino, Wendy S, Mortier, Geert, Parkash, Sandhya, Ray, Cenai R, Roberts, Angharad, Roberts, Amy, Reardon, Willie, Schnur, Rhonda E, Smith, Rosemarie, Splitt, Miranda, Tezcan, Kamer, Whiteford, Margo L, Wong, Derek A, Zori, Roberto, Lin, Angela E
المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A ; ISSN: 1552-4825
مصطلحات موضوعية: Medicine and Health Sciences, branchio-oculo-facial syndrome, cleft lip/palate, mutation analysis, neurocristopathy, TFAP2A, CHARGE SYNDROME, INTERSTITIAL DELETION, MOLECULAR ANALYSES, INNER-EAR, PATIENT, AP-2
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/1164795Test; http://hdl.handle.net/1854/LU-1164795Test; http://dx.doi.org/10.1002/ajmg.a.33783Test; https://biblio.ugent.be/publication/1164795/file/6748498Test
الإتاحة: https://doi.org/10.1002/ajmg.a.33783Test
https://biblio.ugent.be/publication/1164795Test
http://hdl.handle.net/1854/LU-1164795Test
https://biblio.ugent.be/publication/1164795/file/6748498Test -
9دورية أكاديمية
المؤلفون: Milunsky, Jeff M., Maher, Tom M., Zhao, Geping, Wang, Zhenyuan, Mulliken, John B., Chitayat, David, Clemens, Michele, Stalker, Heather J., Bauer, Mislen, Burch, Michele, Chénier, Sébastien, Cunningham, Michael L., Drack, Arlene V., Janssens, Sandra, Karlea, Audrey, Klatt, Regan, Kini, Usha, Klein, Ophir, Lachmeijer, Augusta M., Megarbane, Andre, Mendelsohn, Nancy J., Meschino, Wendy S., Mortier, Geert R., Parkash, Sandhya, Ray, C. Renai, Roberts, Angharad, Roberts, Amy, Reardon, Willie, Schnur, Rhonda E., Smith, Rosemarie, Splitt, Miranda, Tezcan, Kamer, Whiteford, Margo L., Wong, Derek A., Zori, Roberto, Lin, Angela E.
المصدر: American Journal of Medical Genetics Part A ; volume 155, issue 1, page 22-32 ; ISSN 1552-4825 1552-4833
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10دورية أكاديمية
المؤلفون: Harvey Mudd, S, Braverman, Nancy, Pomper, Martin, Tezcan, Kamer, Kronick, Jonathan, Jayakar, Parul, Garganta, Cheryl, Ampola, Mary G, Levy, Harvey L, McCandless, Shawn E, Wiltse, Hobart, Stabler, Sally P, Allen, Robert H, Wagner, Conrad, Borschel, Marlene W
المصدر: Molecular Genetics and Metabolism ; volume 79, issue 1, page 6-16 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/s1096-7192Test(03)00066-0
https://api.elsevier.com/content/article/PII:S1096719203000660?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719203000660?httpAccept=text/plainTest