R. Habenicht

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Eva Klopocki, Harald Schulze, Gabriele Strauß et al. · The American Journal of Human Genetics · 2007 · 369 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Duplications of <i>BHLHA9</i> are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

Eva Klopocki, Silke B. Lohan, Sandra C. Doelken et al. · Journal of Medical Genetics · 2011 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Microduplications encompassing the Sonic hedgehog limb enhancer <scp>ZRS</scp> are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome

Silke B. Lohan, Malte Spielmann, Sandra C. Doelken et al. · Clinical Genetics · 2014 · 64 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

Naeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann et al. · Orphanet Journal of Rare Diseases · 2014 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A Multicenter Comparative Study of Two Classification Systems for Radial Polydactyly

Robert R. Dijkman, Christianne A. van Nieuwenhoven, Ruud W. Selles et al. · Plastic & Reconstructive Surgery · 2014 · 33 citations

Dentistry, Radiology, Diagnostic Imaging +11