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BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan

scientific article published on 07 June 2019

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

artículo científico publicado en 2019

Identification of novel LEPR mutations in Pakistani families with morbid childhood obesity

scholarly article by Robina Khan Niazi et al published 15 November 2018 in BMC Medical Genetics

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families

artículo científico publicado en 2019

Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report

scientific article published on 05 September 2019

Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families

artículo científico publicado en 2019

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