תוצאות חיפוש - Fran Annese
- Showing 1 - 11 results of 11
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Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women With Rett Syndrome מאת 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
יצא לאור 2012Artigo -
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Rett syndrome diagnostic criteria: Lessons from the Natural History Study מאת 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
יצא לאור 2010Artigo -
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Developmental delay in Rett syndrome: data from the natural history study מאת 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
יצא לאור 2014Artigo -
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Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2 מאת 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
יצא לאור 2016Artigo -
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Clinical severity and quality of life in children and adolescents with Rett syndrome מאת 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
יצא לאור 2011Artigo -
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Age of Diagnosis in Rett Syndrome: Patterns of Recognition Among Diagnosticians and Risk Factors for Late Diagnosis מאת 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
יצא לאור 2015Artigo -
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Rare Noncoding Mutations Extend the Mutational Spectrum in the <i>PGAP3</i> Subtype of Hyperphosphatasia with Mental Retardation Syndrome מאת 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
יצא לאור 2016Artigo
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Rett syndrome
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MECP2
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