Lista de obras - Thomas A Maher - Dominio Público Uruguay

A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations

artículo científico publicado en 2008

A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?

artículo científico publicado en 2018

A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome

artículo científico publicado en 2008

Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens

article

Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication

artículo científico

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

artículo científico publicado en 1992

Connexin-26 gene analysis in hearing-impaired newborns

artículo científico publicado en 2000

Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome

artículo científico publicado en 2010

Fertility in Men With Cystic Fibrosis

artículo científico publicado en 2000

Fragile X carrier screening and spinocerebellar ataxia in older males

scientific article published on 01 March 2004

Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism

scientific article published on 07 July 2011

Gene sequencing in neonates and infants with the long QT syndrome.

artículo científico publicado en 2005

LADD syndrome is caused by FGF10 mutations

artículo científico publicado en 2006

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.

artículo científico publicado en 2003

Mutation analysis in Rett syndrome

artículo científico publicado en 2001

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma