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List of works by Johanna Christina Czeschik

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome

scientific article published on 10 October 2013

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

scientific article published in August 2013

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

scientific article published in April 2014

Clinical interpretation of CNVs with cross-species phenotype data

scientific article

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

scientific article

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

scientific article published on 20 August 2014

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

scientific article

TNF-α differentially modulates ion channels of nociceptive neurons

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

scientific article

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations inABCC9

scientific article published on 10 January 2013

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

scientific article

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