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Clinical Genetics|February 22, 2011
First HPSE2 missense mutation in urofacial syndromeS Mahmood, C Beetz, M M Tahir, et al.
American Journal of Human Genetics|December 23, 2006
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychiaC Bergmann, J Senderek, D Anhuf, et al.
Journal of Medical Genetics|June 11, 2009
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)E A Otto, K Tory, M Attanasio, et al.
Kidney International|August 17, 2006
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disordersK Hasselbacher, R C Wiggins, V Matejas, et al.
Clinical Genetics|December 23, 2016
Genetic heterogeneity in Pakistani microcephaly families revisitedI Ahmad, S M Baig, A R Abdulkareem, et al.
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