Saadullah Khan
6PUBLICATIONS
35CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (6)
Sort by Publication Date:
|Apr 14, 2025
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf
|Jul 11, 2022
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.Sheng-Jia Lin, Barbara Vona, Hillary M Porter
|Dec 08, 2021
Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.Fozia Fozia, Khadim Shah, Rubina Nazli
|May 09, 2020
A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.Sher Alam Khan, Muhammad Adnan Khan, Nazif Muhammad
|Mar 15, 2019
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.Hadia Gul, Abdul Haleem Shah, Ricardo Harripaul
|Dec 29, 2017
A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.Anwar Kamal Khan, Noor Muhammad, Sher Alam Khan
Pageof 1
Frequent Collaborators
2 joint publications
Sher Alam Khan
2 joint publications
Naveed Wasif
2 joint publications
Hyung-Goo Kim
2 joint publications
Lawrence Layman
2 joint publications
Franz Rüschendorf
2 joint publications
Yves Lacassie
1 joint publications
Cheol-Hee Kim
1 joint publications
Muzammil Ahmad Khan
1 joint publications
Rüstem Yilmaz
1 joint publications
Sheng-Jia Lin
