作者搜索结果 :: APM

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Animal models of Williams syndrome 由 Lucy R. Osborne

出版 2010

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Rearrangements of the Williams–Beuren syndrome locus: molecular basis and implications for speech and language development 由 Lucy R. Osborne, Carolyn Β. Mervis

出版 2007

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Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia 由 EJ Johnson, Stephen W. Scherer, Lucy R. Osborne, LC Tsui, David Oscier, Sarah Mould, FE Cotter

出版 1996

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Hemizygous Deletion of the Syntaxin 1A Gene in Individuals with Williams Syndrome 由 Lucy R. Osborne, Sylvia Soder, Xiaomei Shi, Barbara R. Pober, Teresa Costa, Stephen W. Scherer, Lap‐Chee Tsui

出版 1997

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Williams syndrome 由 Beth A. Kozel, Boaz Barak, Chong Ae Kim, Carolyn Β. Mervis, Lucy R. Osborne, Melanie Porter, Barbara R. Pober

出版 2021

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Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23 由 Emma Strong, Darci T. Butcher, Rajat Singhania, Carolyn Β. Mervis, Colleen A. Morris, Daniel D. De Carvalho, Rosanna Weksberg, Lucy R. Osborne

出版 2015

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Children with 7q11.23 duplication syndrome: Psychological characteristics 由 Carolyn Β. Mervis, Bonnie Klein-Tasman, Myra J. Huffman, Shelley L. Velleman, C. Holley Pitts, Danielle Henderson, Janet Woodruff‐Borden, Colleen A. Morris, Lucy R. Osborne

出版 2015

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Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome 由 Shahryar Khattak, Elise Brimble, Wenbo Zhang, Kirill Zaslavsky, Emma Strong, P. Joel Ross, Jason A. Hendry, Seema Mital, Michael W. Salter, Lucy R. Osborne, James Ellis

出版 2015

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A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome 由 Lucy R. Osborne, Martin Li, Barbara R. Pober, David Chitayat, Joann Bodurtha, Ariane Mandel, Teresa Costa, Theresa A. Grebe, Sarah Cox, L.-C. Tsui, Stephen W. Scherer

出版 2001

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A Predictive Metabolic Signature for the Transition From Gestational Diabetes Mellitus to Type 2 Diabetes 由 Amina Allalou, Amarnadh Nalla, Kacey J. Prentice, Ying Liu, Ming Zhang, Feihan F. Dai, Xian Ning, Lucy R. Osborne, Brian Cox, Erica P. Gunderson, Michael B. Wheeler

出版 2016

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Duplication of GTF2I Results in Separation Anxiety in Mice and Humans 由 Carolyn Β. Mervis, Joana Dida, Emily Lam, Nicole A. Crawford-Zelli, Edwin J. Young, Danielle Henderson, Tuncer Onay, Colleen A. Morris, Janet Woodruff‐Borden, John Yeomans, Lucy R. Osborne

出版 2012

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Reduced fear and aggression and altered serotonin metabolism in <i>Gtf2ird1</i>‐targeted mice 由 Edwin J. Young, Tatiana V. Lipina, Elaine Tam, Ariane Mandel, Steven J. Clapcote, Allison R. Bechard, John Chambers, Howard T.J. Mount, Paul Fletcher, John Roder, Lucy R. Osborne

出版 2007

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7q11.23 Duplication syndrome: Physical characteristics and natural history 由 Colleen A. Morris, Carolyn Β. Mervis, Alex P. Paciorkowski, Omar Abdul‐Rahman, Sarah Dugan, Alan F. Rope, Patricia I. Bader, Laura G. Hendon, Shelley L. Velleman, Bonnie Klein-Tasman, Lucy R. Osborne

出版 2015

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Identification of Genes from a 500-kb Region at 7q11.23 That Is Commonly Deleted in Williams Syndrome Patients 由 Lucy R. Osborne, Duane W. Martindale, Stephen W. Scherer, Xiaomei Shi, Jack J. Huizenga, Henry H.Q. Heng, Teresa Costa, Barbara R. Pober, Lorelei Lew, Jacquelyn Brinkman, Johanna M. Rommens, Ben F. Koop, Lap‐Chee Tsui

出版 1996

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Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus 由 Martin J. Somerville, Carolyn Β. Mervis, Edwin J. Young, Eul‐Ju Seo, Miguel Del Campo, Stephen Bamforth, Ella Peregrine, Wayne Loo, Margaret Lilley, Luis A. Pérez‐Jurado, Colleen A. Morris, Stephen W. Scherer, Lucy R. Osborne

出版 2005

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The Sweet Pee Model for Sglt2 Mutation 由 Joseph Ly, Tuncer Onay, Karen Sison, Gavasker A. Sivaskandarajah, Venkata Sabbisetti, Lingli Li, Joseph V. Bonventre, Ann M. Flenniken, Neal Paragas, Jon M. Barasch, S. Lee Adamson, Lucy R. Osborne, Janet Rossant, Jürgen Schnermann, Susan E. Quaggin

出版 2011

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First Mouse Model for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 由 Frieda Chen, Ruolin Guo, Shousaku Itoh, Luisa Moreno, Esther Rosenthal, Tanya Zappitelli, Ralph Zirngibl, Ann M. Flenniken, William G. Cole, Marc D. Grynpas, Lucy R. Osborne, Wolfgang F. Vogel, Lee K. Adamson, Janet Rossant, Jane E. Aubin

出版 2014

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<i>GTF2I</i> dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders 由 Alejandro Tobon, Reinald Shyti, Carlo Emanuele Villa, Cristina Cheroni, Patricio Fuentes, Sebastiano Trattaro, Nicolò Caporale, Flavia Troglio, Erika Tenderini, Marija Mihailovich, Adrianos Skaros, William T. Gibson, Alessandro Cuomo, Tiziana Bonaldi, Ciro Mercurio, Mario Varasi, Lucy R. Osborne, Giuseppe Testa

出版 2023

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Elastin: mutational spectrum in supravalvular aortic stenosis 由 Kay Metcalfe, Agnes K Rucka, Leslie Smoot, Guenter Hofstadler, Gerald Tuzler, Pascal McKeown, Victoria Mok Siu, Anita Rauch, John Dean, N R Dennis, Ian O. Ellis, William Reardon, Cheryl Cytrynbaum, Lucy R. Osborne, John R.W. Yates, Andrew Read, Dian Donnai, Mayada Tassabehji

出版 2000

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Essential Role of Fkbp6 in Male Fertility and Homologous Chromosome Pairing in Meiosis 由 Michael A. Crackower, Nadine K. Kolas, Junko Noguchi, Renu Sarao, Kazuhiro Kikuchi, Hiroyuki Kaneko, Eiji Kobayashi, Yasuhiro Kawai, I. Kozieradzki, Rushin Landers, Rong Mo, Chi-chung Hui, Edward Nieves, Paula E. Cohen, Lucy R. Osborne, Teiji Wada, Tetsuo Kunieda, Peter B. Møens, Josef Penninger

出版 2003

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