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Lista de obras de Farah R. Zahir

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.

artículo científico publicado en 2009

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha

artículo científico publicado en 2008

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.

artículo científico publicado en 2017

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

artículo científico publicado en 2009

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

artículo científico publicado en 2009

Epigenetic Impacts on Neurodevelopment: Pathophysiological Mechanisms and Genetic Modes of Action

artículo científico publicado el 1 de mayo de 2011

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes

artículo científico publicado en 2016

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome

article by Erica Tsang et al published 17 August 2012 in American Journal of Medical Genetics

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway

scientific journal article

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

artículo científico publicado en 2007

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

artículo científico publicado en 2006

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

artículo científico publicado en 2007

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

artículo científico publicado en 2013

The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility.

artículo científico publicado en 2007

Use of Affymetrix Arrays in the Diagnosis of Gene Copy-Number Variation

scientific article published on 01 April 2015

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