Results 231 to 240 of about 783,564 (331)

Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HNRNPU‐related neurodevelopmental disorder (HNRNPU‐NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be ...
A. K. O. Hodgson   +14 more
wiley   +1 more source

Exploring Family Perspectives of Latino Children’s Literature

open access: yesWOW Stories, 2008
Jeanne G. Fain, Robin Horn
doaj  

International Expert Opinion on Standard of Care for Patients With Schinzel‐Giedion Syndrome: A Modified Delphi Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
Jessica Duis   +16 more
wiley   +1 more source

Annual Research Review: How did COVID-19 affect young children's language environment and language development? A scoping review. [PDF]

open access: yesJ Child Psychol Psychiatry
Zuniga-Montanez C   +4 more
europepmc   +1 more source

Evidence Based Practice Attributes Across Nursing Roles in A Children's Hospital. [PDF]

open access: yesWorldviews Evid Based Nurs
Chapman-Rodriguez R   +2 more
europepmc   +1 more source

Introduction: Opening the World through Literature

open access: yesWOW Stories, 2008
Kathy G. Short
doaj  

Home - About - Disclaimer - Privacy