Results 101 to 110 of about 372,133 (341)
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
Autism spectrum disorder (ASD) is characterized by deficits in social communication and social interaction together with restrictive, repetitive, and inflexible patterns of behavior including routines, rituals, and overfocused interests, sensory sensitivities, and motor stereotypies (e.g., hand flapping when excited or anxious).
Skuse, David +3 more
openaire +2 more sources
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams +8 more
wiley +1 more source
American 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
PLoS ONE, 2017 BackgroundExploring ways to improve the trajectory and symptoms of autism spectrum disorder is prevalent in research, but less is known about the natural prognosis of autism spectrum disorder and course of symptoms.
Łucja Bieleninik +5 more
doaj +1 more source
AsdKB: A Chinese Knowledge Base for the Early Screening and Diagnosis of Autism Spectrum Disorder
, 2022 Tianxing Wu +4 more
openalex +1 more source
Effects of Probiotics on Autism Spectrum Disorder in Children: A Systematic Review and Meta-Analysis of Clinical Trials [PDF]
, 2023 Xiao He +4 more
openalex +1 more source
Brief Report: An evaluation of an Australian autism-specific, early intervention programme [PDF]
, 2015 There is a relative paucity of evidence examining the effectiveness of early intervention for young children with Autism Spectrum Disorder, in particular those delivered through educationally-based programmes.
Beamish, Wendi +4 more
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