Results 201 to 210 of about 63,534 (247)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Exploring Family Perspectives of Latino Children’s Literature

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

Assessing content validity of learner milestones for decolonial global health education: A modified Delphi study. [PDF]

open access: yesPLOS Glob Public Health
Edwards JG   +12 more
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli   +18 more
wiley   +1 more source

The Power of Power in Responding to Literature

open access: yesWOW Stories, 2009
Kathryn Tompkins
doaj  

Second Chances: A Pediatric Orthopaedic Society of North America Survey and Review of Current Practices and Attitudes Toward the Reuse of Deep Orthopaedic Implants. [PDF]

open access: yesJ Pediatr Soc North Am
Rambo A   +9 more
europepmc   +1 more source

Introduction: Opening the World through Literature

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

Preterm Birth International Collaborative Australasia Branch: Expert Consensus on Diagnosis and Treatment of Neonatal Lactose Intolerance (2025). [PDF]

open access: yesPediatr Discov
Wang Z   +42 more
europepmc   +1 more source

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