Johanna C. Czeschik

Essen, NW, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 16 publications

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.

Journal: American journal of medical genetics. Part A

Published: October 05, 2020

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

Journal: European journal of human genetics : EJHG

Published: June 09, 2016

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

Journal: Human genetics

Published: July 02, 2015

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Journal: Human genetics

Published: December 02, 2014

Clinical interpretation of CNVs with cross-species phenotype data.

Clinical interpretation of CNVs with cross-species phenotype data.

Journal: Journal of medical genetics

Published: October 05, 2014

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

Journal: American journal of human genetics

Published: August 21, 2014

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

Journal: Human genetics

Published: August 15, 2014

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.

Journal: Bioinformatics (Oxford, England)

Published: August 01, 2014

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.

Journal: European journal of human genetics : EJHG

Published: April 11, 2014

A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.

A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.

Journal: Clinical dysmorphology

Published: February 25, 2014

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Journal: Human molecular genetics

Published: August 03, 2013

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.

Journal: Orphanet journal of rare diseases

Published: July 09, 2013

Showing 1-12 of 16

Last Updated: 09/26/2026