Terminal microdeletions of 13q34 chromosome region in patients with intellectual disability: Delineation of an emerging new microdeletion syndrome

Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter

Maria Kirchhoff, Anne‐Marie Bisgaard, Radka Stoeva et al. · American Journal of Medical Genetics Part A · 2009 · 175 citations

Life Sciences, Genetics, Molecular Genetics +17

Prothrombotic phenotype of protein Z deficiency

Zheng-Feng Yin, Zhong-Fu Huang, Jisong Cui et al. · Proceedings of the National Academy of Sciences · 2000 · 155 citations

Medicine, Biochemistry, Hematology +17

Twelve new patients with 13q deletion syndrome: Genotype–phenotype analyses in progress

Chloé Quēlin, Claude Bendavid, Christèle Dubourg et al. · European Journal of Medical Genetics · 2008 · 129 citations

Life Sciences, Genetics, Molecular Genetics +16

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

Maja Hempel, Kirsten Cremer, Charlotte W. Ockeloen et al. · The American Journal of Human Genetics · 2015 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, <i>CARS2,</i> lead to a severe epileptic encephalopathy and complex movement disorder

Curtis R. Coughlin, Gunter Scharer, Marisa W. Friederich et al. · Journal of Medical Genetics · 2015 · 81 citations · Full text

Life Sciences, Genetics, Neurology +17