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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)
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 ...
Direct molecular analysis of FMR-1 gene mutation in patients with fragile Xq syndrome and their families Análisis molecular directo de mutaciones en el gen FMR-1 en pacientes con Síndrome de Xq frágil y sus familias
(1998)
Background: The unequivocal diagnosis of fragile Xq syndrome is based in the direct analysis of the underlying FMR-1 gene mutation, that consists in an increased number of trinucleotide CGG repetitions. Aim: To study ...
JAK2V617F mutation prevalence on chilean adults suffering from primary mesenteric and portal venous thromboses
(Wiley, 2020)
Introduction Mesenteric and portal venous thromboses are rare diseases with high mortality rates and are strongly associated with hepatic cirrhosis, and abdominal inflammatory or tumoral processes, but in some cases can ...
Dynamical mutation of dark energy
(Amer Physical Soc, 2008-03-01)
We discuss the intriguing possibility that dark energy may change its equation of state in situations where large dark energy fluctuations are present. We show indications of this dynamical mutation in some generic models ...
Analysis Of Mitochondrial Alterations In Brazilian Patients With Sensorineural Hearing Loss Using Maldi-tof Mass Spectrometry
(BIOMED CENTRAL LTDLONDON, 2016)
Analysis Of Mitochondrial Alterations In Brazilian Patients With Sensorineural Hearing Loss Using Maldi-tof Mass Spectrometry
(Biomed Central LtdLondon, 2016)
Determination of a BRCA1 gene mutation in a family with hereditary breast cancer
(SOC MEDICA SANTIAGO, 2004)
Background: Breast cancer is the main cause of death among fore, the women between 40 and 55 years old, in whom the hereditary cases are common. Therefore molecular diagnosis of germ line initiations involved in breast ...