受强制性开放获取政策约束的文章 - Marios Kambouris了解详情
无法在其他位置公开访问的文章：1 篇
Absence of GPR54 and TACR3 mutations in sporadic cases of idiopathic central precocious puberty
S Leka-Emiri, E Louizou, M Kambouris, G Chrousos, N De Roux, ...
Hormone Research in Paediatrics 81 (3), 177-181, 2014
强制性开放获取政策： National Institute of Health and Medical Research, France
可在其他位置公开访问的文章：4 篇
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome
S Hadj-Rabia, G Brideau, Y Al-Sarraj, RC Maroun, ML Figueres, ...
Genetics in Medicine 20 (2), 190-201, 2018
强制性开放获取政策： Swiss National Science Foundation, Luxembourg National Research Fund
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
AU Rehman, M Najafi, M Kambouris, L Al‐Gazali, P Makrythanasis, A Rad, ...
Human mutation 40 (3), 267-280, 2019
强制性开放获取政策： Swiss National Science Foundation, US National Institutes of Health …
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy
M Kambouris, J Thevenon, A Soldatos, A Cox, J Stephen, T Ben‐Omran, ...
Annals of clinical and translational neurology 4 (1), 26-35, 2017
强制性开放获取政策： US National Institutes of Health
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
D Rots, S Choufani, V Faundes, AJM Dingemans, S Joss, N Foulds, ...
The American Journal of Human Genetics 111 (8), 1626-1642, 2024
强制性开放获取政策： National Institute for Health Research, UK, European Commission, Netherlands …
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