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Pediatric Neurology
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October 18, 2024
The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder
Kristen Barbour, Matthew N Bainbridge, Kristen Wigby, et al.
Molecular Genetics & Genomic Medicine
|
June 2, 2021
Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome
Jennifer Friedman, Lynne M Bird, Richard Haas, et al.
Journal of Autism and Developmental Disorders
|
January 31, 2021
Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III
Anjali Sadhwani, Anne Wheeler, Angela Gwaltney, et al.
American Journal of Medical Genetics. Part A
|
November 11, 2003
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome
Jennifer J Johnston, Isabelle Olivos-Glander, Joyce Turner, et al.
Nature Medicine
|
January 9, 2019
Identifying facial phenotypes of genetic disorders using deep learning
Yaron Gurovich, Yair Hanani, Omri Bar, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 28, 2023
Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study
Christopher Keary, Lynne M Bird, Marie-Claire de Wit, et al.
Child Psychiatry and Human Development
|
September 4, 2020
Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model
Tom Willgoss, Daiana Cassater, Siobhan Connor, et al.
Journal of Intellectual Disability Research : JIDR
|
September 2, 2025
Parental Stress and Family Quality of Life in Families of Individuals Living With Angelman Syndrome
Catherine Merton, Angela Gwaltney, Anna Booman, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 19, 2025
Parental stress and family quality of life in families of individuals living with Angelman syndrome
Catherine Merton, Angela Gwaltney, Anna Booman, et al.
Journal of Autism and Developmental Disorders
|
August 15, 2023
Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition
Angela Gwaltney, Sarah Nelson Potter, Sarika U Peters, et al.
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of 12
Search research articles
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Showing results (51-60 of 120) with videos related to
Sort By:
Page
of 12
Pediatric Neurology
|
October 18, 2024
The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder
Kristen Barbour, Matthew N Bainbridge, Kristen Wigby, et al.
Molecular Genetics & Genomic Medicine
|
June 2, 2021
Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome
Jennifer Friedman, Lynne M Bird, Richard Haas, et al.
Journal of Autism and Developmental Disorders
|
January 31, 2021
Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III
Anjali Sadhwani, Anne Wheeler, Angela Gwaltney, et al.
American Journal of Medical Genetics. Part A
|
November 11, 2003
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome
Jennifer J Johnston, Isabelle Olivos-Glander, Joyce Turner, et al.
Nature Medicine
|
January 9, 2019
Identifying facial phenotypes of genetic disorders using deep learning
Yaron Gurovich, Yair Hanani, Omri Bar, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 28, 2023
Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study
Christopher Keary, Lynne M Bird, Marie-Claire de Wit, et al.
Child Psychiatry and Human Development
|
September 4, 2020
Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model
Tom Willgoss, Daiana Cassater, Siobhan Connor, et al.
Journal of Intellectual Disability Research : JIDR
|
September 2, 2025
Parental Stress and Family Quality of Life in Families of Individuals Living With Angelman Syndrome
Catherine Merton, Angela Gwaltney, Anna Booman, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 19, 2025
Parental stress and family quality of life in families of individuals living with Angelman syndrome
Catherine Merton, Angela Gwaltney, Anna Booman, et al.
Journal of Autism and Developmental Disorders
|
August 15, 2023
Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition
Angela Gwaltney, Sarah Nelson Potter, Sarika U Peters, et al.
Page
of 12