受强制性开放获取政策约束的文章 - Fatma Al Jasmi了解详情
无法在其他位置公开访问的文章：1 篇
A novel mutation in an atypical presentation of the rare infantile Farber disease
F Al Jasmi
Brain and Development 34 (6), 533-535, 2012
强制性开放获取政策： US National Institutes of Health
可在其他位置公开访问的文章：7 篇
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families
P Makrythanasis, M Nelis, FA Santoni, M Guipponi, A Vannier, F Béna, ...
Human mutation 35 (10), 1203-1210, 2014
强制性开放获取政策： Swiss National Science Foundation, European Commission
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
M Huemer, D Karall, A Schossig, JE Abdenur, F Al Jasmi, C Biagosch, ...
Journal of inherited metabolic disease 38, 905-914, 2015
强制性开放获取政策： US National Institutes of Health, Austrian Science Fund, UK Medical Research …
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies
LH Rodan, M Hauptman, AM D'Gama, AE Qualls, S Cao, K Tuschl, ...
Molecular genetics and metabolism 124 (2), 161-167, 2018
强制性开放获取政策： US National Institutes of Health
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 …
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability
AM Al-Shamsi, S Ben-Salem, J Hertecant, F Al-Jasmi
European Journal of Pediatrics 174, 661-668, 2015
强制性开放获取政策： US National Institutes of Health
Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1
T Grammatikopoulos, N Hadzic, P Foskett, S Strautnieks, M Samyn, ...
Hepatology Communications 6 (3), 473-479, 2022
强制性开放获取政策： US National Institutes of Health
A humanized neuronal model system reveals key roles for manganese in neuronal endocytosis, calcium flux and mitochondrial bioenergetics
D Budinger, S Alhaque, R Gonzalez-Mendez, C Dadswell, K Barwick, ...
bioRxiv, 2024.11. 27.625600, 2024
强制性开放获取政策： National Institute for Health Research, UK
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