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List of works by Shabir Hussain

A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family

scientific article published on 01 January 2020

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

scientific article published on 03 July 2018

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

scientific article published on 28 October 2019

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

scientific article published on 30 November 2018

Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux

scientific article published on 18 July 2018

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment

scientific article published on 03 September 2018

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

scientific article published on 13 February 2018

Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome

scientific article published on 01 October 2019

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

scientific article published on 13 April 2019

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