M. Kausar

发表

Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

C. Khor, A. Mir, S. Siddiqi, 2018, Journal of Biomedical Science.

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

C. Khor, S. Ikegawa, S. Siddiqi, 2022, BMC Musculoskeletal Disorders.

Pharmacological evaluation of Rhazya stricta root extract

B. Mirza, B. Green, Shahzad Hussain, 2020 .

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

O. Mäkitie, J. Carey, P. Bayrak-Toydemir, 2019, JCI insight.

A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family

C. Rivolta, P. Farinelli, S. Siddiqi, 2016, Clinical genetics.

SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report

Muhammad Umair, M. Alfadhel, S. Abbas, 2019, Front. Genet..

Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.

O. Mäkitie, J. Ignatius, R. Mäkitie, 2019, European journal of medical genetics.

Biallelic variants in four genes underlying recessive osteogenesis imperfecta.

O. Mäkitie, W. Ahmad, Muhammad Umair, 2020, European journal of medical genetics.

Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

C. Khor, A. Mir, S. Siddiqi, 2019, Journal of Biomedical Science.

Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

C. Khor, A. Mir, S. Siddiqi, 2018, Journal of Biomedical Science.