Results 241 to 250 of about 842,146 (306)

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet   +11 more
wiley   +1 more source

TBX3‐ Related Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

Hypertensive disorders of pregnancy and childhood neurodevelopment: A systematic review and meta-analysis. [PDF]

open access: yesPLoS Med
Atkinson JA   +6 more
europepmc   +1 more source

Darwinism and developmental psychology

Journal of the History of the Behavioral Sciences, 1983
This article first examines the way in which early developmental psychologists interpreted and modified Darwin's original insights in the direction of both recapitulation and organic selection. It then examines some of the scientific and extrascientific factors that led the young Piaget to reject Darwinism.
Jacques Voneche   +2 more
openaire   +3 more sources

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