A. Kuechler

Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci

Susanne Ledig, Olaf Hiort, Gerd Scherer et al. · Human Reproduction · 2010 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Refining the phenotype of <i>α‐1a Tubulin </i>(<i>TUBA1A</i>) mutation in patients with classical lissencephaly

DJ Morris‐Rosendahl, Juliane Najm, A.M.A. Lachmeijer et al. · Clinical Genetics · 2008 · 93 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Multicolor chromosome banding (MCB) with YAC/BAC-based probes and region-specific microdissection DNA libraries

Thomas Liehr, Anja Weise, Anita Heller et al. · Cytogenetic and Genome Research · 2002 · 69 citations

Life Sciences, Biology, Genetics +15

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

Nuria C. Bramswig, H.‐J. Lüdecke, Maria Pettersson et al. · Human Genetics · 2016 · 64 citations

Medicine, Pediatrics, Psychiatry +16