Ngā hua rapu - Fran Annese
- E whakaatu ana i te 1 - 11 hua o te 11
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Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women With Rett Syndrome mā 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
I whakaputaina 2012Artigo -
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Rett syndrome diagnostic criteria: Lessons from the Natural History Study mā 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
I whakaputaina 2010Artigo -
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Developmental delay in Rett syndrome: data from the natural history study mā 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
I whakaputaina 2014Artigo -
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Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2 mā 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
I whakaputaina 2016Artigo -
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Clinical severity and quality of life in children and adolescents with Rett syndrome mā 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
I whakaputaina 2011Artigo -
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Age of Diagnosis in Rett Syndrome: Patterns of Recognition Among Diagnosticians and Risk Factors for Late Diagnosis mā 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
I whakaputaina 2015Artigo -
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Rare Noncoding Mutations Extend the Mutational Spectrum in the <i>PGAP3</i> Subtype of Hyperphosphatasia with Mental Retardation Syndrome mā 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
I whakaputaina 2016Artigo
Ngā utauta rapu:
Ngā marau whai pānga
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