Last Updated: 09/26/2026
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Found 37 publications
A novel loss-of-function variant in DNHD1 linked to human asthenozoospermia.
Journal: Clinical and experimental reproductive medicine
Published: November 27, 2025
Successful Spinal Anesthesia in a Patient With Severe Coagulopathy From Acute Liver Disease of Pregnancy Undergoing Cesarean Section: A Case Report.
Journal: Cureus
Published: November 17, 2025
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.
Journal: American journal of medical genetics. Part A
Published: September 29, 2025
Mutational disruption of transcription factors binding and regulatory networks in a case of unexplained total fertilization failure.
Journal: Journal of translational medicine
Published: July 15, 2025
Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.
Journal: Human reproduction open
Published: January 24, 2025
A Novel Homozygous Loss-of-Function Variant in GPR156 Delineates Non-syndromic Hearing Loss.
Journal: Biochemical genetics
Published: November 01, 2024
Anesthesia Strategies for the Perioperative Management of Severe Pulmonary Hypertension in Emergency Orthopedic Surgery: A Case Report.
Journal: Cureus
Published: September 06, 2024
The genetic cause of neurodevelopmental disorders in 30 consanguineous families.
Journal: Frontiers in medicine
Published: April 28, 2024
Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
Journal: Clinical genetics
Published: March 14, 2024
Last Updated: 09/26/2026