Buscar
Mostrando ítems 1-10 de 79
beta-Spectrin S-ta Barbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism
(Blackwell Science LtdOxfordInglaterra, 2001)
Multiple paragangliomas associated to a SDHB gene mutation. report of one case Paragangliomas múltiples asociados a mutación del gen SDHB. caso clínico
(2011)
Paragangliomas are tumors arising from sympathetic and parasympathetic tissues. The classic associated syndromes are neurofibromatosis type 1, multiple endocrine neoplasia type 2 and von Hippel-Lindau. Germline mutations ...
Actions and roles of fsh in germinative cells
(2021-09-01)
Follicle stimulating hormone (FSH) is produced by the pituitary gland in a coordinated hypothalamic–pituitary–gonadal (HPG) axis event, plays important roles in reproduction and germ cell development during different phases ...
Cáncer colorrectal hereditario: análisis molecular de los genes APC y MLH1
(Sociedad Médica de Santiago, 2006)
Suggestive associations between polymorphisms in PAX9, MSX1 genes and third molar agenesis in humans
(Bentham Science Publ LtdSharjahEmirados Árabes Unidos, 2006)
Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA
(2014)
The manifestation of mitochondrial DNA (mtDNA) diseases depends on the frequency of heteroplasmy (the presence of several alleles in an individual), yet its transmission across generations cannot be readily predicted owing ...