M. Leipoldt

Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

Franz P.W. Radner, Slaheddine Marrakchi, Peter Kirchmeier et al. · PLoS Genetics · 2013 · 154 citations · Full text

Developmental Anomaly, Mendelian Disorder, Splice Site Mutation +11

Two novel translocation breakpoints upstream of <i>SOX9</i> define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

M. Leipoldt, Martin Erdel, G. A. Bien-Willner et al. · Clinical Genetics · 2006 · 100 citations · Full text

Unusual chromosomal mosaicism as a cause of mental retardation and congenital malformations in a familial reciprocal translocation carrier, t(17;22)(q24.2;q11.23)

Andreas Dufke, H. Mayrhofer, H. Enders et al. · Cytogenetic and Genome Research · 2001 · 80 citations

Cytogenetics, Genetics, Pathology +17

DNA sequence organisation in avian genomes

Jörg T. Epplen, M. Leipoldt, Wolfgang Engel et al. · Chromosoma · 1978 · 74 citations

Avian Genomes, Phylogenetics, Molecular Ecology +10

Multigene deletions on chromosome 20q13.13-q13.2 includingSALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay

Wiktor Borozdin, John M. Graham, Detlef Böhm et al. · Human Mutation · 2007 · 60 citations · Full text