Wolfram Heinritz

Cottbus, BB 03048, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 10 publications

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.

Journal: Neurology. Genetics

Published: November 20, 2023

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

Journal: American journal of human genetics

Published: March 03, 2023

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

Journal: American journal of human genetics

Published: April 15, 2022

Mutation in Nav 1.7 causes high olfactory sensitivity.

Mutation in Nav 1.7 causes high olfactory sensitivity.

Journal: European journal of pain (London, England)

Published: June 20, 2018

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

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

Published: December 12, 2016

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Journal: American journal of medical genetics. Part A

Published: April 28, 2016

Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

Journal: Nature genetics

Published: July 30, 2015

Transcriptional regulator PRDM12 is essential for human pain perception.

Transcriptional regulator PRDM12 is essential for human pain perception.

Journal: Nature genetics

Published: September 29, 2014

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

Journal: BMC medical genetics

Published: July 30, 2014

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

Journal: European journal of human genetics : EJHG

Published: June 05, 2013

Showing 1-10 of 10

Last Updated: 09/26/2026