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Symptomatic female carriers of Duchenne Muscular Dystrophy (DMD): genetic and clinical characterization
(Elsevier, 2014-01-15)
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by mutations in the dystrophin gene and is characterized by muscle degeneration and death. DMD affects males; females being asymptomatic carriers ...
Lack of mutation in exon 10 of p53 gene in thyroid tumors
(Soc Medica SantiagoSantiago 9Chile, 2004)
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients
(Scientific Reports, 2017-07-05)
Pathogenic BRCA1/2 germline mutations confer high risks of breast and ovarian cancer to women of European ancestry. Characterization of BRCA1/2 mutations in other ethnic groups is also medically important. We comprehensively ...
Motor pathway excitability in atp13a2 mutation carriers: a transcranial magnetic stimulation study
(ELSEVIER SCIENCE LONDON, 2012)
Motor pathway excitability in atp13a2 mutation carriers: a transcranial magnetic stimulation study
(ELSEVIER SCIENCE LONDON, 2012)
Motor pathway excitability in atp13a2 mutation carriers: a transcranial magnetic stimulation study
(ELSEVIER SCIENCE LONDON, 2012)