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List of works by Hermann-Josef Lüdecke

A family with autosomal dominant oculo-auriculo-vertebral spectrum

scientific article

A novel large deletion of the ICR1 region including H19 and putative enhancer elements

scientific article published on 6 May 2015

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

scientific article

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

scientific article published on 9 April 2017

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

Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome ⬇️

scientific article published on December 1, 1991

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal ⬇️

scientific article published on February 1, 2004

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

scientific article

RAD21 mutations cause a human cohesinopathy

scientific article

The RING finger protein RNF4, a co-regulator of transcription, interacts with the TRPS1 transcription factor

scientific article

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

scientific article

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