Resultados da busca - Lucy R. Osborne

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  1. 1
    Animal models of Williams syndrome

    Animal models of Williams syndrome por Lucy R. Osborne

    Publicado em 2010
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  2. 2
    Rearrangements of the Williams–Beuren syndrome locus: molecular basis and implications for speech and language development

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

    Publicado em 2007
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  3. 3
    Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia

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

    Publicado em 1996
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  4. 4
    Hemizygous Deletion of the Syntaxin 1A Gene in Individuals with Williams Syndrome

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

    Publicado em 1997
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  5. 5
    Williams syndrome

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

    Publicado em 2021
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  6. 6
    Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23

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

    Publicado em 2015
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  7. 7
    Children with 7q11.23 duplication syndrome: Psychological characteristics

    Children with 7q11.23 duplication syndrome: Psychological characteristics por 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

    Publicado em 2015
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  8. 8
    Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome

    Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome por 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

    Publicado em 2015
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  9. 9
    A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

    A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome por 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

    Publicado em 2001
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  10. 10
    A Predictive Metabolic Signature for the Transition From Gestational Diabetes Mellitus to Type 2 Diabetes

    A Predictive Metabolic Signature for the Transition From Gestational Diabetes Mellitus to Type 2 Diabetes por 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

    Publicado em 2016
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  11. 11
    Duplication of GTF2I Results in Separation Anxiety in Mice and Humans

    Duplication of GTF2I Results in Separation Anxiety in Mice and Humans por 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

    Publicado em 2012
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  12. 12
    Reduced fear and aggression and altered serotonin metabolism in <i>Gtf2ird1</i>‐targeted mice

    Reduced fear and aggression and altered serotonin metabolism in <i>Gtf2ird1</i>‐targeted mice por 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

    Publicado em 2007
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  13. 13
    7q11.23 Duplication syndrome: Physical characteristics and natural history

    7q11.23 Duplication syndrome: Physical characteristics and natural history por 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

    Publicado em 2015
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  14. 14
    Identification of Genes from a 500-kb Region at 7q11.23 That Is Commonly Deleted in Williams Syndrome Patients

    Identification of Genes from a 500-kb Region at 7q11.23 That Is Commonly Deleted in Williams Syndrome Patients por 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

    Publicado em 1996
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  15. 15
    Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus

    Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus por 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

    Publicado em 2005
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  16. 16
    The Sweet Pee Model for Sglt2 Mutation

    The Sweet Pee Model for Sglt2 Mutation por 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

    Publicado em 2011
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  17. 17
    First Mouse Model for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome

    First Mouse Model for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome por 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

    Publicado em 2014
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  18. 18
    <i>GTF2I</i> dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders

    <i>GTF2I</i> dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders por 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

    Publicado em 2023
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  19. 19
    Elastin: mutational spectrum in supravalvular aortic stenosis

    Elastin: mutational spectrum in supravalvular aortic stenosis por 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

    Publicado em 2000
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  20. 20
    Essential Role of Fkbp6 in Male Fertility and Homologous Chromosome Pairing in Meiosis

    Essential Role of Fkbp6 in Male Fertility and Homologous Chromosome Pairing in Meiosis por 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

    Publicado em 2003
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