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Human Genetics|November 2, 1977
A new case of XX-male (XX/XXY mosaic)P Kaiser, K Gerhard-Ratschow, B Zabel, et al.
European Journal of Human Genetics : EJHG|March 28, 2008
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor geneS Türkmen, K Hoffmann, Osman Demirhan, et al.
Genomics|October 27, 1998
Characterization of a human homologue of the Saccharomyces cerevisiae transcription factor spt3 (SUPT3H)J Yu, J M Madison, S Mundlos, et al.
Clinical Genetics|March 27, 2009
Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3B Tuysuz, S Mizumoto, K Sugahara, et al.
Genetic Counseling (Geneva, Switzerland)|June 6, 2015
Neuroimaging and clinical characterization of Sotos syndromeS Türkmen, S Şahin, N Koçer, et al.
Development (Cambridge, England)|February 15, 2001
Sonic hedgehog is a survival factor for hypaxial muscles during mouse developmentM Krüger, D Mennerich, S Fees, et al.
American Journal of Medical Genetics|May 3, 1996
Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigreeR König, C Dukiet, A Dörries, et al.
Molecular and Cellular Probes|June 1, 1996
Two different PAX3 gene mutations causing Waardenburg syndrome type IG Wildhardt, A Winterpacht, K Hilbert, et al.
European Journal of Pediatrics|July 1, 1995
Nephropathy with Wilms tumour or gonadal dysgenesis: incomplete Denys-Drash syndrome or separate diseases?K Schmitt, B Zabel, G Tulzer, et al.
Cytogenetics and Cell Genetics|January 1, 1996
Human CLAPS2 encoding AP17, a small chain of the clathrin-associated protein complex: cDNA cloning and chromosomal assignment to 19q13.2-->q13.3A Winterpacht, S Endele, T Enklaar, et al.
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