受强制性开放获取政策约束的文章 - Himanshu Goel了解详情
无法在其他位置公开访问的文章：8 篇
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo‐obstruction
G Ravenscroft, S Pannell, G O'Grady, R Ong, HC Ee, F Faiz, L Marns, ...
Neurogastroenterology & Motility 30 (9), e13371, 2018
强制性开放获取政策： National Health and Medical Research Council, Australia
Expansion of phenotype of DDX3X syndrome: six new cases
B Beal, I Hayes, J McGaughran, DJ Amor, C Miteff, V Jackson, O van Reyk, ...
Clinical dysmorphology 28 (4), 169-174, 2019
强制性开放获取政策： National Health and Medical Research Council, Australia
A sibling study of isolated optic neuropathy associated with novel variants in the ACO2 gene
JC Kelman, BA Kamien, NC Murray, H Goel, CL Fraser, JR Grigg
Ophthalmic Genetics 39 (5), 648-651, 2018
强制性开放获取政策： National Health and Medical Research Council, Australia
Speech, language, and oromotor skills in patients with polymicrogyria
RO Braden, JO Boyce, CA Stutterd, K Pope, H Goel, RJ Leventer, ...
Neurology 96 (14), e1898-e1912, 2021
强制性开放获取政策： National Health and Medical Research Council, Australia
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
T Celse, A Tingaud-Sequeira, K Dieterich, G Siegfried, C Lecaignec, ...
Journal of medical genetics 60 (6), 620-626, 2023
强制性开放获取政策： US National Institutes of Health
GABRA1‐Related Disorders: From Genetic to Functional Pathways
E Musto, VWY Liao, KM Johannesen, CD Fenger, D Lederer, K Kothur, ...
Annals of Neurology 95 (1), 27-41, 2024
强制性开放获取政策： US National Institutes of Health, National Health and Medical Research …
Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly
K Shimojima, N Okamoto, H Goel, Y Ondo, T Yamamoto
European Journal of Medical Genetics 60 (12), 650-654, 2017
强制性开放获取政策： Wellcome Trust
Natural history of adults with KBG syndrome: a physician-reported experience
A Bayat, H Grimes, E de Boer, MK Herlin, RS Dahl, ICB Lund, M Bayat, ...
Genetics in Medicine, 101170, 2024
强制性开放获取政策： National Institute for Health Research, UK
可在其他位置公开访问的文章：38 篇
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
EM Jenkinson, MP Rodero, PR Kasher, C Uggenti, A Oojageer, ...
Nature genetics 48 (10), 1185-1192, 2016
强制性开放获取政策： UK Biotechnology and Biological Sciences Research Council, Wellcome Trust
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation
MS Hildebrand, VE Jackson, TS Scerri, O Van Reyk, M Coleman, ...
Neurology 94 (20), e2148-e2167, 2020
强制性开放获取政策： Australian Research Council, National Health and Medical Research Council …
Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in zebrafish
JC Van De Weghe, TDS Rusterholz, B Latour, ME Grout, KA Aldinger, ...
The American Journal of Human Genetics 101 (1), 23-36, 2017
强制性开放获取政策： Swiss National Science Foundation, US National Institutes of Health …
DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency
CV Logan, JE Murray, DA Parry, A Robertson, R Bellelli, Ž Tarnauskaitė, ...
The American Journal of Human Genetics 103 (6), 1038-1044, 2018
强制性开放获取政策： US National Institutes of Health, Cancer Research UK, Chief Scientist Office …
Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36
HP Zaveri, TF Beck, A Hernández-García, KE Shelly, T Montgomery, ...
PloS one 9 (1), e85600, 2014
强制性开放获取政策： US National Institutes of Health
Mandibulofacial dysostosis with microcephaly: mutation and database update
L Huang, MR Vanstone, T Hartley, M Osmond, N Barrowman, J Allanson, ...
Human mutation 37 (2), 148-154, 2016
强制性开放获取政策： US National Institutes of Health, Canadian Institutes of Health Research …
ALG1‐CDG: clinical and molecular characterization of 39 unreported patients
BG Ng, SA Shiryaev, D Rymen, EA Eklund, K Raymond, M Kircher, ...
Human mutation 37 (7), 653-660, 2016
强制性开放获取政策： US National Institutes of Health
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
AM Bournazos, LG Riley, S Bommireddipalli, L Ades, LS Akesson, ...
Genetics in Medicine 24 (1), 130-145, 2022
强制性开放获取政策： National Health and Medical Research Council, Australia, Medical Research …
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease
VT Huynh, MP Audrézet, JA Sayer, AC Ong, S Lefevre, V Le Brun, ...
Kidney international 98 (2), 476-487, 2020
强制性开放获取政策： US National Institutes of Health, UK Medical Research Council, National …
De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay
LELM Vissers, S Kalvakuri, E de Boer, S Geuer, M Oud, I van Outersterp, ...
The American Journal of Human Genetics 107 (1), 164-172, 2020
强制性开放获取政策： Netherlands Organisation for Scientific Research, European Commission
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
A Kaspi, MS Hildebrand, VE Jackson, R Braden, O Van Reyk, T Howell, ...
Molecular psychiatry 28 (4), 1647-1663, 2023
强制性开放获取政策： Australian Research Council, National Health and Medical Research Council …
Severe speech impairment is a distinguishing feature of FOXP1‐related disorder
RO Braden, DJ Amor, SE Fisher, C Mei, CT Myers, H Mefford, D Gill, ...
Developmental Medicine & Child Neurology 63 (12), 1417-1426, 2021
强制性开放获取政策： US National Institutes of Health, National Health and Medical Research …
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