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Mostrando ítems 11-20 de 129
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
(Nature Publishing, 2015)
Duplications in the similar to 2 Mb desert region upstream of SOX9 at 17q24.3 may result in familial 46, XX disorders of sex development (DSD) without any effects on the XY background. A balanced translocation with its ...
Heterochromatin variation in Oziroë argentinensis (Hyacinthaceae) revealed by florescent banding
(Univ Florence Botany Inst, 2006-01)
Previous studies in Oziroë argentinensis (Lillo et Hauman) Speta, have showed variation of heterochromatic regions between and within different populations of the species. In this study, were examined the heterochromatic ...
Prenatal diagnosis of i(18q) and dup(18q) cases by quantitative fluorescent PCR
(2013-09)
Particular sonographic fetal malformations are common in chromosome 18 aberrations, requiring invasive prenatal tests to confirm the diagnosis. Karyotyping is the gold standard assay in these cases, although it is a high ...
Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16)
(Brasil, 2012)
Genetic defects resulting in deficiency of thyroid hormone synthesis can be found in about 10% of the patients with permanent congenital hypothyroidism, but the identification of genetic abnormalities in association with ...
An extra idic(21)(q22.1) in a child with some features of Down's syndrome
(1999)
A 30-month-old boy with mental retardation, hypotonia, joint hyperlaxity, Brushfield spots, open mouth, distal axial triradius t', and ulnar loops on both forefingers was found to have a 47,XY, + psu idic(2l)(q22.1).ish ...
An extra idic(21)(q22.1) in a child with some features of Down's syndrome
(1999)
A 30-month-old boy with mental retardation, hypotonia, joint hyperlaxity, Brushfield spots, open mouth, distal axial triradius t', and ulnar loops on both forefingers was found to have a 47,XY, + psu idic(2l)(q22.1).ish ...
Femoral vein bitroncular originated with the trunk axiofemoral parva saphenous veinVena femoral bitroncular con tronco axiofemoral originado de la vena safena parva
(Universidad de Ciencias Aplicadas y Ambientales U.D.C.A, 2014)
Comparación entre MPI y otras escalas de mortalidad (APACHE II, qSOFA, SOFA y SIRS) en sepsis abdominal por peritonitis secundaria
(Universidad Nacional de TrujilloPE, 2022)