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Last Updated: 10/31/2025
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Found 271 publications
Diabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects.
Journal: Frontiers in medicine
Published: June 02, 2025
H syndrome presenting with bilateral cheek enlargement and an SLC29A3 gene variant.
Journal: BMJ case reports
Published: May 15, 2025
Etiologies and clinical characteristics of primary amenorrhea: A study from a quaternary care hospital in southern Thailand.
Journal: The journal of obstetrics and gynaecology research
Published: February 17, 2025
Cochlear implant in Wolfram syndrome: A case report.
Journal: Cochlear implants international
Published: December 24, 2024
Clinical Progression and Manifestations of H Syndrome: A Case Report of Failed Treatment Option.
Journal: The American journal of case reports
Published: June 08, 2024
Unusual Association of 46XY/45XO Mosaic Turner Syndrome and Mullerian Agenesis.
Journal: Nigerian journal of clinical practice
Published: April 13, 2024
Endocrine Dysfunction in Primary Mitochondrial Diseases.
Journal: Endocrine reviews
Published: April 10, 2024
A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review.
Journal: BMC medical genomics
Published: March 04, 2024
Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center.
Journal: Archives of endocrinology and metabolism
Published: February 02, 2024
Cases with the H syndrome presenting with skin and bone findings.
Journal: The Australasian journal of dermatology
Published: January 18, 2024
Last Updated: 10/31/2025