受强制性开放获取政策约束的文章 - Oana Moldovan了解详情
可在其他位置公开访问的文章：11 篇
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
AJ Vallejo-Vaz, CAT Stevens, ARM Lyons, KI Dharmayat, T Freiberger, ...
The Lancet 398 (10312), 1713-1725, 2021
强制性开放获取政策： Canadian Institutes of Health Research, National Institute for Health …
Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1, 25 (OH) 2D serum levels are associated with PHEX …
M Morey, L Castro-Feijóo, J Barreiro, P Cabanas, M Pombo, M Gil, ...
BMC medical genetics 12 (1), 1-11, 2011
强制性开放获取政策： Government of Spain
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations
GE Jones, P Ostergaard, AT Moore, FC Connell, D Williams, O Quarrell, ...
European Journal of Human Genetics 22 (7), 881-887, 2014
强制性开放获取政策： British Heart Foundation, National Institute for Health Research, UK
Rare variants in 48 genes account for 42% of cases of epilepsy with or without neurodevelopmental delay in 246 paediatric patients
A Fernández-Marmiesse, I Roca, F Díaz Flores, V Cantarín, ...
Frontiers in neuroscience 13, 1135, 2019
强制性开放获取政策： Government of Spain
Mowat-Wilson Syndrome: Growth Charts
I Ivanovski, O Djuric, S Broccoli, SG Caraffi, A Patrizia, MP Adam, K Avela, ...
强制性开放获取政策： Fondazione Telethon, Italy
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures
B Royer-Bertrand, M Jequier Gygax, K Cisarova, JA Rosenfeld, ...
Molecular Autism 12, 1-11, 2021
强制性开放获取政策： US National Institutes of Health
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
R Kaiyrzhanov, A Rad, SJ Lin, A Bertoli-Avella, WW Kallemeijn, A Godwin, ...
Brain 147 (4), 1436-1456, 2024
强制性开放获取政策： Versus Arthritis, UK, UK Biotechnology and Biological Sciences Research …
Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype
AM Medeiros, AC Alves, B Miranda, JR Chora, M Bourbon, Q Rato, ...
Journal of Lipid Research 65 (2), 2024
强制性开放获取政策： Fundação para a Ciência e a Tecnologia, Portugal
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction
A Amor-Salamanca, A Santana Rodríguez, H Rasoul, ...
Circulation: Genomic and Precision Medicine, e004404, 2024
强制性开放获取政策： Government of Spain
A cryptic microdeletion del (12)(p11. 21p11. 23) within an unbalanced translocation t (7; 12)(q21. 13; q23. 1) implicates new candidate loci for intellectual disability and …
A Ben-Mahmoud, S Kishikawa, V Gupta, NT Leach, Y Shen, O Moldovan, ...
Scientific reports 13 (1), 12984, 2023
强制性开放获取政策： US National Institutes of Health
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD
S Jorge, K Kidd, P Vylet’al, E Nogueira, L Martin, K Howard, V Barešová, ...
Kidney International Reports 8 (5), 1112-1116, 2023
强制性开放获取政策： US National Institutes of Health
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