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List of works by Zafar Iqbal

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

scientific article published on 16 January 2014

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

scientific article published on 19 December 2012

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.

scientific article published on 6 October 2015

A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family

scientific article published on 01 February 2011

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

scientific article published on 24 August 2017

CHCHD2 and Parkinson's disease

scientific article published in July 2015

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

scientific article published on 31 August 2018

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

scientific article

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

scientific article

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

scientific article

Exome sequencing identifies three novel candidate genes implicated in intellectual disability

scientific article

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

scientific article published on 26 July 2016

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

scientific journal article

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

scientific article published on 17 August 2017

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

scientific article

Huh-7 cell line as an alternative cultural model for the production of human like erythropoietin (EPO).

scientific article

Identifying genes responsible for intellectual disability in consanguineous families

scientific article published on 29 July 2014

Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia

scientific article published on 04 January 2019

Missense mutations in DYT-TOR1A dystonia

scientific article published on 06 June 2019

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

scientific article

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

scientific article published on 25 July 2019

Novel UCHL1 mutations reveal new insights into ubiquitin processing.

scientific article

Rare variants in dementia genes and Parkinson's disease

scientific article published on 22 June 2016

TMEM230 variants in Parkinson's disease.

scientific article published in March 2019

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

scientific article

Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability.

scientific article published on 3 March 2012

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