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3. A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family. (28th December 2017)

4. A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations. Issue 9 (25th July 2019)

5. Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin. (15th February 2023)

6. Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families. (11th May 2019)

7. Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function. Issue 10 (21st July 2022)

10. Front Cover, Volume 43, Issue 10. Issue 10 (2nd September 2022)