H.-J. Lüdecke

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

Alma Kuechler, Alexander M. Zink, Thomas Wieland et al. · European Journal of Human Genetics · 2014 · 143 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer--Giedion syndrome

H.-J. Lüdecke, M.J. Wagner, J. Nardmann et al. · Human Molecular Genetics · 1995 · 123 citations

Life Sciences, Molecular Biology, Molecular Genetics +8

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

Johanna Christina Czeschik, Claudia Voigt, Yasemin Alanay et al. · Human Genetics · 2013 · 83 citations

Life Sciences, Genetics, Molecular Genetics +15

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

Dagmar Wieczorek, William G. Newman, Thomas Wieland et al. · The American Journal of Human Genetics · 2014 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9