Last Updated: 09/26/2026
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Found 46 publications
Acute Thrombocytopaenia Induced by Teicoplanin in a Patient With Right Leg Cellulitis.
Journal: Cureus
Published: October 01, 2025
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.
Journal: Genome medicine
Published: February 01, 2025
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 15, 2024
Recurrent Gastrointestinal Symptoms and Diagnosis of Superior Mesenteric Artery Syndrome.
Journal: Cureus
Published: November 04, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.
Journal: American journal of human genetics
Published: March 29, 2024
Variants in FREM1 and trisomy 18 identified in a neonatal progeria patient.
Journal: Molecular biology reports
Published: March 08, 2023
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 09, 2023
KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.
Journal: The International journal of neuroscience
Published: October 25, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Journal: American journal of human genetics
Published: September 01, 2022
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Journal: Nature communications
Published: April 09, 2022
Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness.
Journal: Ophthalmic research
Published: June 24, 2021
Last Updated: 09/26/2026