Miriam J. Bertrand

Tuebingen, BW, Germany

Last Updated: 09/26/2026

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Found 28 publications

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.

Journal: EMBO molecular medicine

Published: April 25, 2026

Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability.

Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability.

Journal: Journal of medical genetics

Published: January 14, 2026

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

Brain malformations and seizures by impaired chaperonin function of TRiC.

Brain malformations and seizures by impaired chaperonin function of TRiC.

Journal: Science (New York, N.Y.)

Published: October 31, 2024

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Journal: medRxiv : the preprint server for health sciences

Published: February 14, 2024

De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome.

De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome.

Journal: Molecular syndromology

Published: November 14, 2023

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Journal: Nature communications

Published: August 09, 2023

Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.

Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.

Journal: Open biology

Published: July 11, 2023

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.

Journal: Journal of medical genetics

Published: June 20, 2023

Clustering of Tadalafil API Samples According to their Manufacturer in the Context of API Falsification Detection.

Clustering of Tadalafil API Samples According to their Manufacturer in the Context of API Falsification Detection.

Journal: Journal of pharmaceutical sciences

Published: February 23, 2023

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: January 26, 2023

Novel Variants of SOX4 in Patients with Intellectual Disability.

Novel Variants of SOX4 in Patients with Intellectual Disability.

Journal: International journal of molecular sciences

Published: January 17, 2023

Showing 1-12 of 28

Last Updated: 09/26/2026