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Clinical Genetics|January 29, 2016
High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorderQ-J Zhang, B Han, L Lan, et al.
Clinical Genetics|February 3, 2016
Clinical, biochemical and molecular characterization of prosaposin deficiencyM Motta, M Tatti, F Furlan, et al.
Clinical Genetics|January 16, 2016
A non-sense MCM9 mutation in a familial case of primary ovarian insufficiencyF Fauchereau, S Shalev, E Chervinsky, et al.
Clinical Genetics|January 13, 2016
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic testJ Thevenon, Y Duffourd, A Masurel-Paulet, et al.
Clinical Genetics|January 13, 2016
DMRTA2 (DMRT5) is mutated in a novel cortical brain malformationJ E Urquhart, G Beaman, H Byers, et al.
Clinical Genetics|October 1, 1989
Inv(8)(p23q22) and recombinant derivative in a Sicilian familyT Mattina, L Conti, G Milone, et al.
Clinical Genetics|March 23, 2016
RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypesS Valence, C Garel, M Barth, et al.
Clinical Genetics|February 10, 2016
Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1I San Román, M Navarro, F Martínez, et al.
Clinical Genetics|February 12, 2016
Identification of a founder BRCA1 mutation in the Moroccan populationF Quiles, À Teulé, N Martinussen Tandstad, et al.
Clinical Genetics|December 1, 1989
Strengths and weaknesses in the cognitive profile of fra(X) patientsL M Curfs, M Borghgraef, A Wiegers, et al.
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