Filtros de búsqueda

Lista de obras de Eunice Matoso

Absence of a del(22q11) in a patient with the 3C (craniocerebellocardiac) syndrome

artículo científico publicado en 1998

Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.

artículo científico publicado en 2015

Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region ⬇️

artículo científico publicado el 2 de mayo de 2012

Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism

artículo científico publicado en 2013

Drug transporters play a key role in the complex process of Imatinib resistance in vitro

artículo científico publicado en 2014

Human bronchial epithelial cells malignantly transformed by hexavalent chromium exhibit an aneuploid phenotype but no microsatellite instability.

artículo científico publicado en 2009

Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder.

artículo científico publicado en 2013

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.

artículo científico publicado en 2014

Inv21p12q22del21q22 and intellectual disability

artículo científico publicado en 2012

Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.

artículo científico publicado en 2009

Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation.

artículo científico

Partial tetrasomy of chromosome 3q and mosaicism in a child with autism

artículo científico

Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.

scientific article published on 26 June 2007

Two new cases ofde novo small supernumerary marker chromosomes (sSMC) detected at prenatal diagnosis

artículo científico publicado en 2007

X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation

artículo científico publicado en 2010

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda