受强制性开放获取政策约束的文章 - Ajoy Vincent了解详情
无法在其他位置公开访问的文章：4 篇
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome
S Dhanraj, A Matveev, H Li, S Lauhasurayotin, L Jardine, M Cada, ...
Blood, The Journal of the American Society of Hematology 129 (11), 1557-1562, 2017
强制性开放获取政策： Canadian Institutes of Health Research
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium
A Vincent, N Forster, JT Maynes, TA Paton, G Billingsley, NM Roslin, A Ali, ...
Journal of medical genetics 51 (12), 797-805, 2014
强制性开放获取政策： Canadian Institutes of Health Research, Genome Canada
Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly
G Billingsley, A Vincent, C Deveault, E Héon
Ophthalmic genetics 33 (3), 150-154, 2012
强制性开放获取政策： Canadian Institutes of Health Research
The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration
A Vincent, FL Munier, CC Vandenhoven, T Wright, CA Westall, E Héon
Retina 32 (8), 1643-1651, 2012
强制性开放获取政策： Swiss National Science Foundation
可在其他位置公开访问的文章：32 篇
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
AC Lionel, G Costain, N Monfared, S Walker, MS Reuter, SM Hosseini, ...
Genetics in Medicine 20 (4), 435-443, 2018
强制性开放获取政策： Canadian Institutes of Health Research, Genome Canada
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
S Kohl, D Zobor, WC Chiang, N Weisschuh, J Staller, IG Menendez, ...
Nature genetics 47 (7), 757-765, 2015
强制性开放获取政策： US National Institutes of Health, US Department of Veterans Affairs …
BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition
C Deveault, G Billingsley, JL Duncan, J Bin, R Theal, A Vincent, ...
Human mutation 32 (6), 610-619, 2011
强制性开放获取政策： Swiss National Science Foundation, US National Institutes of Health
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)
E Heon, G Kim, S Qin, JE Garrison, E Tavares, A Vincent, ...
Human molecular genetics 25 (11), 2283-2294, 2016
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute, National …
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
E Lenassi, A Vincent, Z Li, Z Saihan, AJ Coffey, HB Steele-Stallard, ...
European Journal of Human Genetics 23 (10), 1318-1327, 2015
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK …
Achromatopsia mutations target sequential steps of ATF6 activation
WC Chiang, P Chan, B Wissinger, A Vincent, A Skorczyk-Werner, ...
Proceedings of the National Academy of Sciences 114 (2), 400-405, 2017
强制性开放获取政策： US National Institutes of Health, US Department of Veterans Affairs
Detailed clinical phenotype and molecular genetic findings in CLN3-associated isolated retinal degeneration
CA Ku, S Hull, G Arno, A Vincent, K Carss, R Kayton, D Weeks, ...
JAMA ophthalmology 135 (7), 749-760, 2017
强制性开放获取政策： US National Institutes of Health, National Institute for Health Research, UK
Characterization of retinal structure in ATF6-associated achromatopsia
RR Mastey, M Georgiou, CS Langlo, A Kalitzeos, EJ Patterson, T Kane, ...
Investigative ophthalmology & visual science 60 (7), 2631-2640, 2019
强制性开放获取政策： US National Institutes of Health, US Department of Veterans Affairs …
Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related “cone dystrophy with supernormal rod electroretinogram”
A Vincent, T Wright, Y Garcia-Sanchez, M Kisilak, M Campbell, C Westall, ...
Investigative ophthalmology & visual science 54 (1), 898-908, 2013
强制性开放获取政策： Canadian Institutes of Health Research
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
A Vig, JA Poulter, D Ottaviani, E Tavares, K Toropova, AM Tracewska, ...
Genetics in Medicine 22 (12), 2041-2051, 2020
强制性开放获取政策： UK Biotechnology and Biological Sciences Research Council, Cancer Research …
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes
YV Sergeev, S Vitale, PA Sieving, A Vincent, AG Robson, AT Moore, ...
Human molecular genetics 22 (23), 4756-4767, 2013
强制性开放获取政策： US National Institutes of Health
The RUSH2A study: best-corrected visual acuity, full-field electroretinography amplitudes, and full-field stimulus thresholds at baseline
DG Birch, P Cheng, JL Duncan, AR Ayala, MG Maguire, I Audo, ...
Translational vision science & technology 9 (11), 9-9, 2020
强制性开放获取政策： US National Institutes of Health, National Institute for Health Research, UK …
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome
AD Igelman, C Ku, MM da Palma, M Georgiou, ER Schiff, BL Lam, ...
Ophthalmic genetics 42 (6), 664-673, 2021
强制性开放获取政策： US National Institutes of Health, National Institute for Health Research, UK
KCNV2-associated retinopathy: genetics, electrophysiology, and clinical course—KCNV2 Study Group Report 1
M Georgiou, AG Robson, K Fujinami, SM Leo, A Vincent, F Nasser, ...
American journal of ophthalmology 225, 95-107, 2021
强制性开放获取政策： US National Institutes of Health, German Research Foundation, National …
Phenotype driven analysis of whole genome sequencing identifies deep intronic variants that cause retinal dystrophies by aberrant exonization
M Di Scipio, E Tavares, S Deshmukh, I Audo, K Green-Sanderson, ...
Investigative ophthalmology & visual science 61 (10), 36-36, 2020
强制性开放获取政策： Natural Sciences and Engineering Research Council of Canada, Agence …
Jalili syndrome: cross-sectional and longitudinal features of seven patients with cone-rod dystrophy and amelogenesis imperfecta
N Hirji, PD Bradley, S Li, A Vincent, ME Pennesi, AS Thomas, E Heon, ...
American journal of ophthalmology 188, 123-130, 2018
强制性开放获取政策： US National Institutes of Health, National Institute for Health Research, UK …
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