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Description of the D4/D4 genotype in Miniature horses with dwarfism
(2020-01-01)
Four causative mutations (D1, D2, D3*, and D4) of chondrodysplastic dwarfism have been described in the equine aggrecan (ACAN) gene. Homozygotes for one of these mutations and heterozygotes for any combination of these ...
Baixa estatura por haploinsuficiência do gene SHOX: do diagnóstico ao tratamento
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008)
Estudos realizados em pacientes portadores de deleções parciais dos cromossomos sexuais permitiram a caracterização do SHOX, gene localizado na região pseudoautossômica no braço curto dos cromossomos sexuais, fundamental ...
Growth hormone of dried blood spot for the diagnosis of growth hormone deficiencyHormona de crecimiento en sangre de papel filtro para el diagnóstico de deficiencia de hormona de crecimiento
(Sociedad Chilena de Pediatria, 2019)
© 2019, Sociedad Chilena de Pediatria. All rights reserved.Introduction: The diagnosis of growth hormone deficiency (GHD) is difficult to determine, and could be associated with severe complications, especially in the ...
Estudio molecular de pacientes colombianos afectados por enanismo esencial
(Universidad del RosarioMaestría en Ciencias con Énfasis en Genética HumanaFacultad de medicina, 2017)
Microcephalic primordial dwarfism syndromes are a group of rare monogenic diseases that are characterized primarily by extreme low stature of prenatal onset and severe microcephaly. In patients who participated in the ...
Frequency of Endocrinopathies and Characteristics of Affected Dogs and Cats in Southern Brazil (2004-2014)
(Universidade Federal do Rio Grande do Sul, 2016)
Molecular identification and report of Aphelenchoides spp. in commercial crops of Hydrangea in Antioquia, ColombiaIdentificación molecular y registro de Aphelenchoides spp. en cultivos comerciales de Hydrangea en Antioquia, Colombia
(Universidad de Ciencias Aplicadas y Ambientales U.D.C.A, 2018)