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Clinical Genetics|November 22, 2007
Genetic heterogeneity of autosomal dominant hypercholesterolemiaM Varret, M Abifadel, J-P Rabès, et al.Clinical Genetics|November 22, 2007
Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing lossV Labay, G Garrido, A C Madeo, et al.Clinical Genetics|December 1, 1991
Tests of performance of four semi-automatic metaphase-finding and karyotyping systemsG Korthof, A D CarothersClinical Genetics|October 6, 2007
Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridizationN Brunetti-Pierri, D K Grange, Z Ou, et al.Clinical Genetics|July 25, 2008
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiologyS C Menon, V V Michels, P A Pellikka, et al.Clinical Genetics|May 15, 2009
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneityA Boukhris, G Stevanin, I Feki, et al.Clinical Genetics|April 25, 2009
Penetrance and clinical consequences of a gross SDHB deletion in a large familyD C Solis, N Burnichon, H J L M Timmers, et al.Clinical Genetics|February 25, 2009
A functional network module for Smith-Magenis syndromeS Girirajan, H T Truong, C L Blanchard, et al.Clinical Genetics|October 1, 2008
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposisD Calva-Cerqueira, S Chinnathambi, B Pechman, et al.Clinical Genetics|October 1, 2008
Adaptation to living with a genetic condition or risk: a mini-reviewB B Biesecker, L ErbyPageof 718