Deborah Bartholdi

Bern, BE, Switzerland

Last Updated: 09/26/2026

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Found 32 publications

Aneurysmal Subarachnoid Hemorrhage in Pediatric DADA2: A Case Report and Literature Review.

Aneurysmal Subarachnoid Hemorrhage in Pediatric DADA2: A Case Report and Literature Review.

Journal: Cureus

Published: April 02, 2026

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: January 13, 2026

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Journal: American journal of human genetics

Published: December 18, 2025

Natural history of patients with familial focal segmental glomerulosclerosis associated with TRPC6 variants.

Natural history of patients with familial focal segmental glomerulosclerosis associated with TRPC6 variants.

Journal: Journal of nephrology

Published: July 15, 2025

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 07, 2024

LEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene.

LEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene.

Journal: Aging cell

Published: January 12, 2024

Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62.

Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62.

Journal: Parkinsonism & related disorders

Published: May 01, 2023

Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.

Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.

Journal: Journal of medical genetics

Published: December 19, 2022

Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report.

Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report.

Journal: Pediatric rheumatology online journal

Published: January 31, 2022

Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.

Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.

Journal: Acta physiologica (Oxford, England)

Published: January 01, 2022

Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.

Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 27, 2020

Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death.

Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death.

Journal: International journal of legal medicine

Published: March 18, 2019

Showing 1-12 of 32

Last Updated: 09/26/2026