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1 . Academic Journal
Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
저자
by
Jahangir Khan
;
Saaim Asif
;
Shamsul Ghani
;
Hamid Khan
;
Muhammad Waqar Arshad
, et al.
소스
BMC Ophthalmology, Vol 24, Iss 1, Pp 1-12 (2024)
Open Access (BioMed Central)
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7 . Academic Journal
Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder
저자
by
Joan Sala-Gaston
;
Eva M. Pérez-Villegas
;
José A. Armengol
;
Lettie E. Rawlins
;
Emma L. Baple
, et al.
소스
Cell Death Discovery, Vol 10, Iss 1, Pp 1-12 (2024)
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7 . Academic Journal
Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families
저자
by
Muhammad Marwan
;
Muhammad Dawood
;
Mukhtar Ullah
;
Irfan Ullah Shah
;
Niamat Khan
, et al.
소스
BMC Ophthalmology, Vol 23, Iss 1, Pp 1-9 (2023)
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7 . Academic Journal
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)
저자
by
Siying Lin
;
Aida Sanchez-Bretaño
;
Joseph S. Leslie
;
Katie B. Williams
;
Helena Lee
, et al.
소스
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-11 (2022)
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7 . Academic Journal
Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families
저자
by
Muhammad Dawood
;
Siying Lin
;
Taj Ud Din
;
Irfan Ullah Shah
;
Niamat Khan
, et al.
소스
International Journal of Ophthalmology, Vol 14, Iss 12, Pp 1843-1851 (2021)
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7 . Academic Journal
CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago
저자
by
Yan Ma
;
Xun Wang
;
Nadav Shoshany
;
Xiaodong Jiao
;
Adrian Lee
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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7 . Academic Journal
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families
저자
by
Shazia Khan
;
Lettie E. Rawlins
;
Gaurav V. Harlalka
;
Muhammad Umair
;
Asmat Ullah
, et al.
소스
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-9 (2019)
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7 . Academic Journal
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping
저자
by
Luke O’Gorman
;
Chelsea S. Norman
;
Luke Michaels
;
Tutte Newall
;
Andrew H. Crosby
, et al.
소스
Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)
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7 . Academic Journal
Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families
저자
by
Abida Akbar
;
Claire Prince
;
Chloe Payne
;
James Fasham
;
Wasim Ahmad
, et al.
소스
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
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7 . Academic Journal
Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics
저자
by
Khushboo Borah
;
Olivia J. Rickman
;
Nikol Voutsina
;
Emma L. Baple
;
Irundika HK Dias
, et al.
소스
Data in Brief, Vol 33, Iss , Pp 106382- (2020)
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