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List of works by Farah R. Zahir

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

scientific article published on 17 September 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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 14 October 2009

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

scientific article published on May 1, 2011

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

scientific article published in November 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

scientific article

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

scientific article

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

scientific article published on 12 January 2007

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

scientific article

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

scientific article published on October 2007

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

scientific article published on 01 April 2015

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