受强制性开放获取政策约束的文章 - Joseph Alaimo了解详情
可在其他位置公开访问的文章：17 篇
Ethanol Metabolism and Osmolarity Modify Behavioral Responses to Ethanol in C. elegans
JT Alaimo, SJ Davis, SS Song, CR Burnette, M Grotewiel, KL Shelton, ...
Alcoholism: Clinical and Experimental Research 36 (11), 1840-1850, 2012
强制性开放获取政策： US National Institutes of Health
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
HL Rehm, JT Alaimo, S Aradhya, P Bayrak-Toydemir, H Best, R Brandon, ...
Genetics in Medicine, 100947, 2023
强制性开放获取政策： US National Institutes of Health
Chloride intracellular channels modulate acute ethanol behaviors in Drosophila, Caenorhabditis elegans and mice
P Bhandari, JS Hill, SP Farris, B Costin, I Martin, CL Chan, JT Alaimo, ...
Genes, Brain and Behavior 11 (4), 387-397, 2012
强制性开放获取政策： US National Institutes of Health
Pathogenic bi-allelic mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency
CL Alston, MT Veling, J Heidler, LS Taylor, JT Alaimo, AY Sung, L He, ...
The American Journal of Human Genetics 106 (1), 92-101, 2020
强制性开放获取政策： US National Science Foundation, US National Institutes of Health, German …
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis
JT Alaimo, KE Glinton, N Liu, J Xiao, Y Yang, VR Sutton, SH Elsea
Genetics in Medicine 22 (9), 1560-1566, 2020
强制性开放获取政策： US National Institutes of Health
Phenotypic and molecular convergence of 2q23. 1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder
SV Mullegama, JT Alaimo, L Chen, SH Elsea
International journal of molecular sciences 16 (4), 7627-7643, 2015
强制性开放获取政策： 国家自然科学基金委员会
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to …
F Vetrini, S McKee, JA Rosenfeld, M Suri, AM Lewis, KM Nugent, ...
Genome medicine 11 (1), 1-17, 2019
强制性开放获取政策： US National Institutes of Health, UK Medical Research Council, National …
Genomewide association study of alcohol dependence identifies risk loci altering ethanol‐response behaviors in model organisms
AE Adkins, LM Hack, TB Bigdeli, VS Williamson, GO McMichael, ...
Alcoholism: Clinical and Experimental Research 41 (5), 911-928, 2017
强制性开放获取政策： US National Institutes of Health, Wellcome Trust
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
TG Drivas, D Li, D Nair, JT Alaimo, M Alders, J Altmüller, TS Barakat, ...
European Journal of Human Genetics 28 (10), 1422-1431, 2020
强制性开放获取政策： US National Institutes of Health, 国家自然科学基金委员会, Netherlands …
Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity-own experience
L Chen, SV Mullegama, JT Alaimo, SH Elsea
Dev Period Med 19 (2), 149-56, 2015
强制性开放获取政策： 国家自然科学基金委员会
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND …
L Chen, PJ Jensik, JT Alaimo, M Walkiewicz, S Berger, E Roeder, ...
Human mutation 38 (12), 1774-1785, 2017
强制性开放获取政策： US National Institutes of Health, 国家自然科学基金委员会
Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion
JT Alaimo, A Besse, CL Alston, K Pang, V Appadurai, M Samanta, ...
Human mutation 39 (4), 537-549, 2018
强制性开放获取政策： US National Institutes of Health, UK Medical Research Council, National …
Smith-Magenis syndrome patients often display antibody deficiency but not other immune pathologies
T Perkins, JM Rosenberg, C Le Coz, JT Alaimo, M Trofa, SV Mullegama, ...
The Journal of Allergy and Clinical Immunology: In Practice 5 (5), 1344-1350. e3, 2017
强制性开放获取政策： US National Institutes of Health
RAI1 overexpression promotes altered circadian gene expression and dyssomnia in Potocki–Lupski syndrome
SV Mullegama, JT Alaimo, MD Fountain, B Burns, AH Balog, L Chen, ...
Journal of pediatric genetics 6 (03), 155-164, 2017
强制性开放获取政策： 国家自然科学基金委员会
SLO-2 isoforms with unique Ca2+- and voltage-dependence characteristics confer sensitivity to hypoxia in C. elegans
Z Zhang, QY Tang, JT Alaimo, AG Davies, JC Bettinger, DE Logothetis
Channels 7 (3), 194-205, 2013
强制性开放获取政策： US National Institutes of Health
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay
J Hanson, D Brezavar, S Hughes, S Amudhavalli, E Fleming, D Zhou, ...
Clinical genetics 101 (2), 214-220, 2022
强制性开放获取政策： US National Institutes of Health
Macrocephaly and developmental delay caused by missense variants in RAB5C
K Koop, W Yuan, F Tessadori, WR Rodriguez-Polanco, J Grubbs, ...
Human Molecular Genetics, ddad130, 2023
强制性开放获取政策： US National Institutes of Health, Canadian Institutes of Health Research …
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