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Clinical Genetics|October 8, 2016
Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndromeL Fontana, B Gentilin, L Fedele, et al.
Clinical Genetics|November 3, 2016
Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT familiesL Liu, X B Li, Z H M Hu, et al.
Clinical Genetics|September 1, 1989
Macrosomia, microphthalmia, +/- cleft palate and early infant death: a new autosomal recessive syndromeA S Teebi, Q A al-Saleh, M M Hassoon, et al.
Clinical Genetics|October 15, 2016
Factors related to genetic testing in adults at risk for Huntington disease: the prospective Huntington at-risk observational study (PHAROS)K A Quaid, S W Eberly, E Kayson-Rubin, et al.
Clinical Genetics|March 1, 1988
Con A non-reactive fractions of human amniotic fluid alpha-fetoprotein in prenatal diagnosis of fetal neural tube defects and fetal abdominal wall defects. Predictive values, sensitivity, and specificity, and comparison to acetylcholinesterase and ultrasound scanningK Toftager-Larsen, B Nørgaard-Pedersen
Clinical Genetics|February 1, 1991
Brief clinical report: a 46,XY phenotypic female with Smith-Lemli-Opitz syndromeM F Lachman, Y Wright, D A Whiteman, et al.
Clinical Genetics|June 17, 2008
Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia familiesZ-Y Wu, Y Lin, W-J Chen, et al.
Clinical Genetics|June 17, 2008
Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndromeF Lombardi, G F Fasciglione, M R D'Apice, et al.
Clinical Genetics|May 29, 2008
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23Z M Ahmed, S Riazuddin, S N Khan, et al.
Clinical Genetics|March 21, 2014
Informed consent for human genetic and genomic studies: a systematic reviewA Khan, B J Capps, M Y Sum, et al.
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