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1 . Academic Journal
Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability
저자
by
Syeda Iqra Hussain
;
Nazif Muhammad
;
Salah Ud Din Shah
;
Fardous Fardous
;
Sher Alam Khan
, et al.
소스
BMC Neurology, Vol 23, Iss 1, Pp 1-11 (2023)
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7 . Academic Journal
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms
저자
by
Nazif Muhammad
;
Syeda Iqra Hussain
;
Zia Ur Rehman
;
Sher Alam Khan
;
Samin Jan
, et al.
소스
Frontiers in Neurology, Vol 14 (2023)
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7 . Academic Journal
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome
저자
by
Hamed Nawaz
;
Mujahid
;
Sher Alam Khan
;
Farhana Bibi
;
Ahmed Waqas
, et al.
소스
Genes, Vol 14, Iss 5, p 1113 (2023)
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7 . Academic Journal
A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family
저자
by
Sher Alam Khan
;
Muhammad Adnan Khan
;
Nazif Muhammad
;
Hina Bashir
;
Niamat Khan
, et al.
소스
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)
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7 .
Biallelic mutations in FLG , TGM1 , and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin
저자
by
Niamatullah Khan
;
Khadim Shah
;
Fozia Fozia
;
Sher A. Khan
;
Nazif Muhammad
, et al.
소스
International Journal of Dermatology
. 62:672-680
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7 .
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
저자
by
Sheng‐Jia Lin
;
Barbara Vona
;
Hillary M. Porter
;
Mahmoud Izadi
;
Kevin Huang
, et al.
소스
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7 .
Front Cover, Volume 43, Issue 10
저자
by
Sheng‐Jia Lin
;
Barbara Vona
;
Hillary M. Porter
;
Mahmoud Izadi
;
Kevin Huang
, et al.
소스
Human Mutation
. 43
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