Saad Ullah Khan
Saad Ullah Khan
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Genetics of human Bardet–Biedl syndrome, an updates
SA Khan, N Muhammad, MA Khan, A Kamal, ZU Rehman, S Khan
Clinical genetics 90 (1), 3-15, 2016
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89
RLP Santos-Cortez, K Lee, Z Azeem, PJ Antonellis, LM Pollock, S Khan, ...
The American Journal of Human Genetics 93 (1), 132-140, 2013
A novel homozygous missense mutation in WNT10B in familial split‐hand/foot malformation
S Khan, S Basit, FK Zimri, N Ali, G Ali, M Ansar, W Ahmad
Clinical genetics 82 (1), 48-55, 2012
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p
AU Rehman, K Gul, RJ Morell, K Lee, ZM Ahmed, S Riazuddin, RA Ali, ...
Human genetics 130 (6), 759-765, 2011
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A
E Klopocki, N Wasif, M Tariq, S Khan, J Hecht, P Krawitz, S Mundlos, ...
Journal of medical genetics 50 (1), 47-53, 2013
Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux
S Khan, RH Ali, S Abbasi, M Nawaz, N Muhammad, W Ahmad
BMC medical genetics 13 (1), 1-8, 2012
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal‐recessive nail dysplasia
G Naz, SM Pasternack, C Perrin, M Mattheisen, M Refke, S Khan, A Gul, ...
British Journal of Dermatology, 2012
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
RLP Santos-Cortez, V Khan, FS Khan, ZN Mughal, I Chakchouk, K Lee, ...
Human genetics 137 (9), 735-752, 2018
Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly
R Kousar, H Nawaz, M Khurshid, G Ali, SU Khan, H Mir, M Ayub, A Wali, ...
Journal of child neurology 25 (6), 715-720, 2010
A novel splice site mutation in gene C2orf37 underlying Woodhouse–Sakati syndrome (WSS) in a consanguineous family of Pakistani origin
R Habib, S Basit, S Khan, MN Khan, W Ahmad
Gene 490 (1-2), 26-31, 2011
Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families
A Aziz, S Khan, FK Zimri, N Muhammad, S Rashid, W Ahmad
Gene 534 (2), 265-271, 2014
Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet–Biedl syndrome
S Khan, I Ullah, M Touseef, S Basit, MN Khan, W Ahmad
Gene 515 (1), 84-88, 2013
Multi drug resistant Pseudomonas aeruginosa: Pathogen burden and associated antibiogram in a tertiary care hospital of Pakistan
W Ullah, M Qasim, H Rahman, F Bari, S Khan, ZU Rehman, Z Khan, ...
Microbial pathogenesis 97, 209-212, 2016
Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families
M Tariq, M Ayub, M Jelani, S Basit, G Naz, N Wasif, SI Raza, AK Naveed, ...
British Journal of Dermatology 160 (5), 1006-1010, 2009
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non‐syndromic hearing impairment
K Lee, S Khan, A Islam, M Ansar, PB Andrade, S Kim, RLP Santos‐Cortez, ...
Clinical genetics 82 (1), 56-63, 2012
The molecular genetics of autosomal recessive nonsyndromic intellectual disability: a mutational continuum and future recommendations
MA Khan, S Khan, C Windpassinger, M Badar, Z Nawaz, RM Mohammad
Annals of Human genetics 80 (6), 342-368, 2016
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan
S Khan, R Habib, H Mir, G Naz, M Ayub, S Shafique, T Yamin, N Ali, ...
Clinical and Experimental Dermatology: Experimental dermatology 36 (6), 652-654, 2011
Homozygous Sequence Variants in the NPR2 Gene Underlying Acromesomelic Dysplasia Maroteaux Type (AMDM) in Consanguineous Families
AW Irfanullah, Umair M, Khan S
Annals of Human Genetics, 2015
Pakistan genetic mutation database (PGMD); a centralized Pakistani mutome data source
I Qasim, B Ahmad, MA Khan, N Khan, N Muhammad, S Basit, S Khan
European journal of medical genetics 61 (4), 204-208, 2018
CTX-M-15 and OXA-10 beta lactamases in multi drug resistant Pseudomonas aeruginosa: first report from Pakistan
W Ullah, M Qasim, H Rahman, S Khan, Z ur Rehman, N Ali, N Muhammad
Microbial pathogenesis 105, 240-244, 2017
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