Ute Grasshoff

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Journal: EMBO molecular medicine

Published: April 25, 2026

KLINSE: a comprehensive service model for rare disease information and care management support.

Journal: Orphanet journal of rare diseases

Published: May 27, 2025

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Journal: Nature communications

Published: March 31, 2025

An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa.

Journal: Klinische Monatsblatter fur Augenheilkunde

Published: March 20, 2024

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: September 07, 2023

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.

Journal: Journal of medical genetics

Published: June 20, 2023

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.

Journal: Brain : a journal of neurology

Published: March 08, 2023

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

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

Published: February 17, 2023

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.

Journal: Journal of medical genetics

Published: November 14, 2022

Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.

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

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

KLINSE: a comprehensive service model for rare disease information and care management support.

KLINSE: a comprehensive service model for rare disease information and care management support.

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa.

An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa.

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.

Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.

Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.

An early onset cone dystrophy due to CEP290 mutation: a case report.

An early onset cone dystrophy due to CEP290 mutation: a case report.