Muhammad Umair

Islamabad, IS, Pakistan

Last Updated: 09/26/2026

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Found 24 publications

Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb.

Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb.

Journal: Clinical genetics

Published: January 11, 2019

Role of secondary metabolites in plant defense against pathogens.

Role of secondary metabolites in plant defense against pathogens.

Journal: Microbial pathogenesis

Published: July 13, 2018

Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia.

Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia.

Journal: Congenital anomalies

Published: May 10, 2018

Long non-coding RNAs as molecular players in plant defense against pathogens.

Long non-coding RNAs as molecular players in plant defense against pathogens.

Journal: Microbial pathogenesis

Published: April 27, 2018

Clinical Genetics of Polydactyly: An Updated Review.

Clinical Genetics of Polydactyly: An Updated Review.

Journal: Frontiers in genetics

Published: April 26, 2018

A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction.

A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction.

Journal: European journal of medical genetics

Published: April 17, 2018

A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.

A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.

Journal: European journal of dermatology : EJD

Published: April 04, 2018

Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.

Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.

Journal: Journal of genetics

Published: January 12, 2018

Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III.

Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: August 15, 2017

A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.

A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.

Journal: Annals of human genetics

Published: August 08, 2017

Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.

Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.

Journal: Congenital anomalies

Published: August 07, 2017

Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.

Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.

Journal: Journal of human genetics

Published: June 08, 2017

Showing 1-12 of 24

Last Updated: 09/26/2026