Výsledky vyhledávání - Fran Annese
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Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women With Rett Syndrome Autor Kathleen J. Motil, Erwin Caeg, Judy O. Barrish, Suzanne Geerts, Jane B. Lane, Alan K. Percy, Fran Annese, Lauren McNair, Steven A. Skinner, Hye‐Seung Lee, Jeffrey L. Neul, Daniel G. Glaze
Vydáno 2012Artigo -
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Rett syndrome diagnostic criteria: Lessons from the Natural History Study Autor Alan K. Percy, Jeffrey L. Neul, Daniel G. Glaze, Kathleen J. Motil, Steven A. Skinner, Omar Khwaja, Hye‐Seung Lee, Jane B. Lane, Judy O. Barrish, Fran Annese, Lauren McNair, Joy Graham, Katherine Barnes
Vydáno 2010Artigo -
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Developmental delay in Rett syndrome: data from the natural history study Autor Jeffrey L. Neul, Jane B. Lane, Hye Seung Lee, Suzanne Geerts, Judy O. Barrish, Fran Annese, Lauren Baggett, Katherine Barnes, Steven A. Skinner, Kathleen J. Motil, Daniel G. Glaze, Walter E. Kaufmann, Alan K. Percy
Vydáno 2014Artigo -
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Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2 Autor Samin A. Sajan, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Daniel G. Glaze, Walter E. Kaufmann, Steven A. Skinner, Fran Annese, Michael J. Friez, Jane B. Lane, Alan K. Percy, Jeffrey L. Neul
Vydáno 2016Artigo -
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Clinical severity and quality of life in children and adolescents with Rett syndrome Autor Jane B. Lane, Hong Sik Lee, Lucas Smith, Peng Cheng, Alan K. Percy, Daniel G. Glaze, Jeffrey L. Neul, Kathleen J. Motil, Judy O. Barrish, Steven A. Skinner, Fran Annese, Lauren McNair, Joy Graham, Omar Khwaja, Katherine Barnes, Jeffrey P. Krischer
Vydáno 2011Artigo -
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Age of Diagnosis in Rett Syndrome: Patterns of Recognition Among Diagnosticians and Risk Factors for Late Diagnosis Autor Daniel Tarquinio, Wei Hou, Jeffrey L. Neul, Jane B. Lane, Katherine V. Barnes, Heather M. O’Leary, Natalie M. Bruck, Walter E. Kaufmann, Kathleen J. Motil, Daniel G. Glaze, Steven A. Skinner, Fran Annese, Lauren Baggett, Judy O. Barrish, Suzanne Geerts, Alan K. Percy
Vydáno 2015Artigo -
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Rare Noncoding Mutations Extend the Mutational Spectrum in the <i>PGAP3</i> Subtype of Hyperphosphatasia with Mental Retardation Syndrome Autor Alexej Knaus, Tomonari Awaya, Ingo Helbig, Zaid Afawi, Manuela Pendziwiat, Jubran Abu‐Rachma, Miles D. Thompson, David E.C. Cole, Steve Skinner, Fran Annese, Natalie Canham, Michal R. Schweiger, Peter N. Robinson, Stefan Mundlos, Taroh Kinoshita, Arnold Münnich, Yoshiko Murakami, Denise Horn, Peter Krawitz
Vydáno 2016Artigo
Vyhledávací nástroje:
Související témata
Gene
Rett syndrome
Biology
Medicine
Pediatrics
Biochemistry
Internal medicine
Psychology
Genetics
Natural history
Phenotype
Chemistry
Cohort
Demography
Gerontology
MECP2
Mutation
Natural history study
Neuroscience
Sociology
Audiology
Body mass index
Chromatin
Clinical psychology
Cobb angle
Coding region
Cognition
Cohort study
Copy-number variation
Developmental psychology