受强制性开放获取政策约束的文章 - Siying Serene Lin了解详情
可在其他位置公开访问的文章：24 篇
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
L Li, X Jiao, I D’Atri, F Ono, R Nelson, CC Chan, N Nakaya, Z Ma, Y Ma, ...
PLoS genetics 14 (8), e1007504, 2018
强制性开放获取政策： US National Institutes of Health, 国家自然科学基金委员会, UK Medical …
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature
S Lin, GV Harlalka, A Hameed, HM Reham, M Yasin, N Muhammad, ...
BMC medical genetics 19, 1-8, 2018
强制性开放获取政策： Wellcome Trust
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan
S Khan, S Lin, GV Harlalka, A Ullah, K Shah, S Khalid, S Mehmood, ...
Annals of human genetics 83 (6), 477-482, 2019
强制性开放获取政策： Wellcome Trust
Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of …
M Shakil, GV Harlalka, S Ali, S Lin, I D’Atri, S Hussain, A Nasir, ...
Eye 33 (8), 1339-1346, 2019
强制性开放获取政策： Wellcome Trust
Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families
MW Arshad, GV Harlalka, S Lin, I D'Atri, S Mehmood, M Shakil, ...
Meta Gene 17, 48-55, 2018
强制性开放获取政策： Wellcome Trust
Spectrum of genetic variants in the most common genes causing inherited retinal disease in a large molecularly characterized United Kingdom cohort
S Lin, S Vermeirsch, N Pontikos, MP Martin-Gutierrez, MD Varela, ...
Ophthalmology Retina 8 (7), 699-709, 2024
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK …
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)
S Lin, A Sanchez-Bretaño, JS Leslie, KB Williams, H Lee, NS Thomas, ...
NPJ Genomic Medicine 7 (1), 2, 2022
强制性开放获取政策： UK Medical Research Council
Delineating the expanding phenotype associated with SCAPER gene mutation
J Fasham, G Arno, S Lin, M Xu, KJ Carss, S Hull, A Lane, AG Robson, ...
American Journal of Medical Genetics Part A 179 (8), 1665-1671, 2019
强制性开放获取政策： US National Institutes of Health, Canadian Institutes of Health Research, UK …
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
S Best, J Yu, J Lord, M Roche, CM Watson, RPJ Bevers, A Stuckey, ...
Journal of Medical Genetics 59 (12), 1151-1164, 2022
强制性开放获取政策： Cancer Research UK, UK Medical Research Council, National Institute for …
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency
J Fasham, S Lin, P Ghosh, FC Radio, EG Farrow, I Thiffault, J Kussman, ...
Genetics in Medicine 24 (3), 631-644, 2022
强制性开放获取政策： US National Institutes of Health, Natural Sciences and Engineering Research …
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency
S Lin, J Fasham, F Al-Hijawi, N Qutob, A Gunning, JS Leslie, L McGavin, ...
European Journal of Human Genetics 29 (10), 1570-1576, 2021
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK …
Sex distributions in Non-ABCA4 autosomal macular dystrophies
AV Mishra, S Vermeirsch, S Lin, MP Martin-Gutierrez, M Simcoe, ...
Investigative Ophthalmology & Visual Science 65 (5), 9-9, 2024
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom
W Woof, TAC de Guimarães, S Al-Khuzaei, M Daich Varela, S Sen, ...
medRxiv, 2024.03. 24.24304809, 2024
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust
Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families
M Dawood, S Lin, TU Din, IU Shah, N Khan, A Jan, M Marwan, K Sultan, ...
International Journal of Ophthalmology 14 (12), 1843, 2021
强制性开放获取政策： Wellcome Trust
Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
J Khan, S Asif, S Ghani, H Khan, MW Arshad, SA Khan, S Lin, EL Baple, ...
BMC ophthalmology 24 (1), 345, 2024
强制性开放获取政策： Wellcome Trust
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis
SS Cornelis, J IntHout, EH Runhart, O Grunewald, S Lin, Z Corradi, ...
JAMA ophthalmology 142 (5), 463-471, 2024
强制性开放获取政策： Health Research Board, Ireland, European Commission
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
S Malka, P Biswas, AM Berry, R Sangermano, M Ullah, S Lin, M D’Antonio, ...
The American Journal of Human Genetics 111 (9), 2012-2030, 2024
强制性开放获取政策： Cancer Research UK, UK Medical Research Council, National Institute for …
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction
M Bauwens, E Celik, D Zur, S Lin, M Quinodoz, M Michaelides, ...
The American Journal of Human Genetics 111 (2), 393-402, 2024
强制性开放获取政策： Swiss National Science Foundation, Research Foundation (Flanders), National …
Comparison of inherited retinal disease genes covered by two comprehensive genetic testing panels and a widely used online resource
A Vanzara, E Schiff, S Lin, JS Pulido, M Michaelides, AR Webster, ...
Eye, 1-2, 2025
强制性开放获取政策： National Institute for Health Research, UK
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
M Quinodoz, K Rodenburg, Z Cvackova, K Kaminska, SE de Bruijn, ...
medRxiv, 2025.01. 06.24317169, 2025
强制性开放获取政策： Fonds de recherche du Québec - Santé, Science Foundation Ireland …
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