Jurgen Kohlhase

Heinrich Von Stephan Str. 5
Freiburg, BW 79100, Germany

Last Updated: 09/26/2026

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Found 52 publications

Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.

Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.

Journal: Frontiers in neuroscience

Published: August 29, 2024

Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRB.

Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRB.

Journal: Ophthalmology science

Published: June 16, 2023

A Genotyped Case of Townes-Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey.

A Genotyped Case of Townes-Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey.

Journal: Journal of pediatric genetics

Published: June 04, 2021

Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.

Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.

Journal: Orphanet journal of rare diseases

Published: February 25, 2021

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

Journal: Orphanet journal of rare diseases

Published: December 10, 2020

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study.

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study.

Journal: British journal of cancer

Published: December 17, 2019

Cerebellar Involvement in DYT-THAP1 Dystonia.

Cerebellar Involvement in DYT-THAP1 Dystonia.

Journal: Cerebellum (London, England)

Published: August 02, 2019

Alitretinoin in punctate palmoplantar keratoderma.

Alitretinoin in punctate palmoplantar keratoderma.

Journal: The British journal of dermatology

Published: October 20, 2018

Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids.

Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids.

Journal: Molecular genetics & genomic medicine

Published: August 12, 2018

Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome - a case report.

Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome - a case report.

Journal: Head & face medicine

Published: February 07, 2018

Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.

Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.

Journal: American journal of human genetics

Published: August 11, 2017

Large Deletions Targeting the Triple-Helical Domain of Collagen VII Lead to Mild Acral Dominant Dystrophic Epidermolysis Bullosa.

Large Deletions Targeting the Triple-Helical Domain of Collagen VII Lead to Mild Acral Dominant Dystrophic Epidermolysis Bullosa.

Journal: The Journal of investigative dermatology

Published: May 19, 2017

Showing 1-12 of 52

Last Updated: 09/26/2026