Last Updated: 09/26/2026
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Found 10 publications
Biallelic STEAP3 Variant in Neonatal Hemophagocytic Lymphohistiocytosis.
Journal: Clinical genetics
Published: November 17, 2025
Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic CDK5RAP2 and CIT variants.
Journal: Molecular genetics and metabolism reports
Published: July 25, 2025
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.
Journal: Cold Spring Harbor molecular case studies
Published: September 09, 2023
Venous malformation may be a feature of EXT1-related hereditary multiple exostoses: A report of two unrelated probands.
Journal: American journal of medical genetics. Part A
Published: December 09, 2022
Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate.
Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: November 17, 2022
Milder presentation of autosomal dominant fatty acyl CoA reductase 1-related syndrome: Report of the first Middle Eastern patient and review of the literature.
Journal: Clinical case reports
Published: June 08, 2022
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Journal: American journal of medical genetics. Part A
Published: June 06, 2022
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
Journal: Journal of inherited metabolic disease
Published: February 07, 2022
A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic.
Journal: Clinical chemistry
Published: November 08, 2021
Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus.
Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus.
Journal: Journal of dental research
Published: October 25, 2021
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Last Updated: 09/26/2026