Hermann-josef J. Ludecke

Duesseldorf, NW 40225, Germany

Last Updated: 09/26/2026

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Found 39 publications

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Journal: Human genetics

Published: August 28, 2023

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.

Journal: Genes

Published: February 03, 2023

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.

Journal: Clinical genetics

Published: October 05, 2022

Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Journal: Journal of molecular medicine (Berlin, Germany)

Published: October 18, 2021

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Journal: Journal of molecular medicine (Berlin, Germany)

Published: March 12, 2021

The Macrophage Migration Inhibitory Factor (MIF) Promoter Polymorphisms (rs3063368, rs755622) Predict Acute Kidney Injury and Death after Cardiac Surgery.

The Macrophage Migration Inhibitory Factor (MIF) Promoter Polymorphisms (rs3063368, rs755622) Predict Acute Kidney Injury and Death after Cardiac Surgery.

Journal: Journal of clinical medicine

Published: August 03, 2020

Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.

Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.

Journal: European journal of human genetics : EJHG

Published: April 16, 2020

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Journal: American journal of human genetics

Published: March 13, 2020

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

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

Published: June 12, 2019

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.

Journal: Clinical genetics

Published: February 25, 2019

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Journal: Human genetics

Published: June 20, 2018

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.

Journal: Human mutation

Published: February 15, 2018

Showing 1-12 of 39

Last Updated: 09/26/2026