Last Updated: 09/26/2026
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Found 11 publications
Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities.
Journal: American journal of human genetics
Published: July 19, 2025
A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications.
Journal: Case reports in genetics
Published: March 04, 2025
Vertical inheritance and unique differential phenotypes of reciprocal recombinant chromosome 18 within a multi-generation family.
Journal: European journal of human genetics : EJHG
Published: June 28, 2024
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
Journal: American journal of medical genetics. Part A
Published: June 21, 2022
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 07, 2022
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.
Journal: HGG advances
Published: March 07, 2022
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.
Journal: Human molecular genetics
Published: January 31, 2022
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
Journal: American journal of medical genetics. Part A
Published: December 10, 2021
Risk of sudden cardiac death in EXOSC5-related disease.
Journal: American journal of medical genetics. Part A
Published: March 15, 2021
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Journal: American journal of human genetics
Published: March 09, 2021
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Journal: Kidney international
Published: February 24, 2021
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Last Updated: 09/26/2026