Related Experiment Videos
Pachygyria, joint contractures, and facial abnormalities: a new lethal syndrome
Journal of Medical Genetics
|August 1, 1990
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
The helix-loop-helix/leucine repeat transcription factor USF can be functionally regulated in a redox-dependent manner.
The Journal of biological chemistry·1992
Differential effects of diazoxide, cromakalim and pinacidil on adrenergic neurotransmission and 86Rb+ efflux in rat brain cortical slices.
The Journal of pharmacology and experimental therapeutics·1992
Specific expressions of Fyn and Lyn, lymphocyte antigen receptor-associated tyrosine kinases, in the central nervous system.
Brain research. Molecular brain research·1992
Operative findings in camptodactyly of the little finger.
Journal of hand surgery (Edinburgh, Scotland)·1992
Exploring the clinical and mutational spectrum of MORC2-associated disorders.
Journal of medical genetics·2026
Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.
Journal of medical genetics·2026
Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.
Journal of medical genetics·2026
Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.
Journal of medical genetics·2026
Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.
Journal of medical genetics·2026
Diagnostic value of platelet-lymphocyte ratio for pediatric sepsis: A systematic review and meta-analysis.
Pakistan journal of medical sciences·2026
Ureaplasma parvum meningitis in neonates: A retrospective case study and literature review.
Pakistan journal of medical sciences·2026
The link between low maternal cholesterol levels and increased risk of fetal patent ductus arteriosus and septal defects: Large-scale cohort retrospective study.
Pakistan journal of medical sciences·2026
Prognostic performance of APUA, APUA-RO2, and CURB-65 scores in patients with critical pneumonia.
Postgraduate medicine·2026