受强制性开放获取政策约束的文章 - Shaikh Ahmad Ali了解详情
无法在其他位置公开访问的文章：1 篇
SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden
R Yilmaz, K Müller, D Brenner, AE Volk, G Borck, A Hermann, T Meitinger, ...
Neurobiology of aging 87, 139. e9-139. e15, 2020
强制性开放获取政策： Federal Ministry of Education and Research, Germany
可在其他位置公开访问的文章：44 篇
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
强制性开放获取政策： US National Institutes of Health, Swedish Research Council, Alzheimers's UK …
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
P Gormley, V Anttila, BS Winsvold, P Palta, T Esko, TH Pers, KH Farh, ...
Nature genetics 48 (8), 856-866, 2016
强制性开放获取政策： US National Institutes of Health, UK Medical Research Council, Wellcome Trust
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22. 1
Nature genetics 42 (10), 869-873, 2010
强制性开放获取政策： US National Institutes of Health, German Research Foundation
Genome-wide meta-analysis identifies new susceptibility loci for migraine
V Anttila, BS Winsvold, P Gormley, T Kurth, F Bettella, G McMahon, ...
Nature genetics 45 (8), 912-917, 2013
强制性开放获取政策： US National Institutes of Health, UK Medical Research Council, Wellcome Trust
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease
EM Jenkinson, AU Rehman, T Walsh, J Clayton-Smith, K Lee, RJ Morell, ...
The American Journal of Human Genetics 92 (4), 605-613, 2013
强制性开放获取政策： US National Institutes of Health, Genome Canada, Wellcome Trust
Hot-spot KIF5A mutations cause familial ALS
D Brenner, R Yilmaz, K Müller, T Grehl, S Petri, T Meyer, J Grosskreutz, ...
Brain 141 (3), 688-697, 2018
强制性开放获取政策： US National Institutes of Health, German Research Foundation, Knut and Alice …
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
JJ Johnston, JJ van der Smagt, JA Rosenfeld, AT Pagnamenta, A Alswaid, ...
Genetics in Medicine 20 (10), 1175-1185, 2018
强制性开放获取政策： US National Institutes of Health, National Institute for Health Research, UK …
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89
RLP Santos-Cortez, K Lee, Z Azeem, PJ Antonellis, LM Pollock, S Khan, ...
The American Journal of Human Genetics 93 (1), 132-140, 2013
强制性开放获取政策： US National Institutes of Health
Comprehensive analysis of the mutation spectrum in 301 German ALS families
K Müller, D Brenner, P Weydt, T Meyer, T Grehl, S Petri, J Grosskreutz, ...
Journal of Neurology, Neurosurgery & Psychiatry 89 (8), 817-827, 2018
强制性开放获取政策： German Research Foundation, Federal Ministry of Education and Research, Germany
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86
AU Rehman, RLP Santos-Cortez, RJ Morell, MC Drummond, T Ito, K Lee, ...
The American Journal of Human Genetics 94 (1), 144-152, 2014
强制性开放获取政策： US National Institutes of Health
Size-dependent strain and surface energies of gold nanoclusters
S Ali, VS Myasnichenko, EC Neyts
Physical Chemistry Chemical Physics 18 (2), 792-800, 2016
强制性开放获取政策： Research Foundation (Flanders)
Mutation of ATF6 causes autosomal recessive achromatopsia
M Ansar, RLP Santos-Cortez, MAN Saqib, F Zulfiqar, K Lee, NM Ashraf, ...
Human Genetics 134, 941-950, 2015
强制性开放获取政策： US National Institutes of Health
LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections
D Guo, ES Regalado, A Pinard, J Chen, K Lee, C Rigelsky, L Zilberberg, ...
The American Journal of Human Genetics 102 (4), 706-712, 2018
强制性开放获取政策： US National Institutes of Health
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
EM Richard, RLP Santos‐Cortez, R Faridi, AU Rehman, K Lee, ...
Human mutation 40 (1), 53-72, 2019
强制性开放获取政策： US National Institutes of Health
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish
RLP Santos-Cortez, K Lee, AP Giese, M Ansar, M Amin-Ud-Din, K Rehn, ...
Human molecular genetics 23 (12), 3289-3298, 2014
强制性开放获取政策： US National Institutes of Health
MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants
SE Wallace, ES Regalado, L Gong, AL Janda, D Guo, CF Russo, ...
Genetics in Medicine 21 (1), 144-151, 2019
强制性开放获取政策： US National Institutes of Health
Further delineation of the KAT6B molecular and phenotypic spectrum
T Gannon, R Perveen, H Schlecht, S Ramsden, B Anderson, B Kerr, ...
European Journal of Human Genetics 23 (9), 1165-1170, 2015
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust
Autosomal-recessive hearing impairment due to rare missense variants within S1PR2
RLP Santos-Cortez, R Faridi, AU Rehman, K Lee, M Ansar, X Wang, ...
The American Journal of Human Genetics 98 (2), 331-338, 2016
强制性开放获取政策： US National Institutes of Health
FUT2 variants confer susceptibility to familial otitis media
RLP Santos-Cortez, CM Chiong, DN Frank, AF Ryan, APJ Giese, ...
The American Journal of Human Genetics 103 (5), 679-690, 2018
强制性开放获取政策： US National Institutes of Health
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