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List of works by Ambrin Fatima

A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family

scientific article published on August 2017

A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.

scientific article published on 10 December 2015

Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population

scientific article published on 11 September 2017

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.

scientific article

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