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Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment
(Academic Press Inc Elsevier ScienceSan DiegoEUA, 2009)
Newborn hearing screening and genetic testing in 8974 Brazilian neonates
(Elsevier Ireland LtdClareIrlanda, 2010)
Primary Congenital Glaucoma: A Novel Single-Nucleotide Deletion and Varying Phenotypic Expression for the 1546-1555dup Mutation in the GLC3A (CYP1B1) Gene in 2 Families of Different Ethnic Origin
(Journal Glaucoma: 12 p. 27-30, 2003-02)
Purpose: To present new molecular genetic data on primary congenital glaucoma from 2 families, 1 isolated case and 3 familial cases due to mutations in the cytochrome P-450 1B1 (CYP1B1) gene.
Methods: All diagnoses were ...
Primary Congenital Glaucoma: A Novel Single-Nucleotide Deletion and Varying Phenotypic Expression for the 1546-1555dup Mutation in the GLC3A (CYP1B1) Gene in 2 Families of Different Ethnic Origin
(Journal Glaucoma: 12 p. 27-30, 2003-02)
Purpose: To present new molecular genetic data on primary congenital glaucoma from 2 families, 1 isolated case and 3 familial cases due to mutations in the cytochrome P-450 1B1 (CYP1B1) gene.
Methods: All diagnoses were ...
Molecular genetics study of deafness in Brazil: 8-year experience
(Wiley-lissHobokenEUA, 2007)
Role of the Mitochondrial Mutations, m. 827A > G and the Novel m. 7462C > T, in the Origin of Hearing Loss
(MARY ANN LIEBERT INC, 2010)
Samples from 30 deaf probands exhibiting features suggestive of syndromic mitochondrial deafness or from families with maternal transmission of deafness were selected for investigation of mutations in the mitochondrial ...
Interdisciplinarities in present Chilean and Hispanoamerican poetryInterdisciplinariedades en las poesías chilena e hispanoamericana actuales
(Instituto de Lingüística y Literatura. Facultad de Filosofía y Humanidades. Universidad Austral de Chile, 2018)