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Clinical Genetics|December 24, 2014
Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of lifeJ S Cohen, H P Levy, J Sloan, et al.
Clinical Genetics|October 17, 2014
Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian populationE Castellsagué, J Liu, A Volenik, et al.
Clinical Genetics|November 11, 2014
Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiencyL Yang, J Yang, T Zhang, et al.
Clinical Genetics|March 1, 1989
Fryns syndrome: report on 8 new casesS Aymé, C Julian, D Gambarelli, et al.
Clinical Genetics|April 1, 1989
Molecular deletions in the Duchenne/Becker muscular dystrophy geneK A Hart, S Abbs, M C Wapenaar, et al.
Clinical Genetics|April 1, 1989
Trisomy 9q3 syndrome: a case report and review of the literatureK Naritomi, Y Izumikawa, Y Goya, et al.
Clinical Genetics|November 4, 2015
Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)matK Matsubara, N Murakami, M Fukami, et al.
Clinical Genetics|June 11, 2016
Expanding non-invasive prenatal testing beyond chromosomes 21, 18, 13, X and YP Benn
Clinical Genetics|May 7, 2016
Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual developmentA-C Thuresson, G Van Buggenhout, F Sheth, et al.
Clinical Genetics|August 19, 2015
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in careS L Sawyer, T Hartley, D A Dyment, et al.
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