受强制性开放获取政策约束的文章 - Hatem EL-SHANTI了解详情
可在其他位置公开访问的文章：16 篇
An autoinflammatory disease with deficiency of the interleukin-1–receptor antagonist
I Aksentijevich, SL Masters, PJ Ferguson, P Dancey, J Frenkel, ...
New England Journal of Medicine 360 (23), 2426-2437, 2009
强制性开放获取政策： US National Institutes of Health
The infevers autoinflammatory mutation online registry: update with new genes and functions
F Milhavet, L Cuisset, HM Hoffman, R Slim, H El‐Shanti, I Aksentijevich, ...
Human mutation 29 (6), 803-808, 2008
强制性开放获取政策： US National Institutes of Health
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome
AG Bassuk, RH Wallace, A Buhr, AR Buller, Z Afawi, M Shimojo, S Miyata, ...
The American Journal of Human Genetics 83 (5), 572-581, 2008
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute
Mutations in prickle orthologs cause seizures in flies, mice, and humans
H Tao, JR Manak, L Sowers, X Mei, H Kiyonari, T Abe, NS Dahdaleh, ...
The American Journal of Human Genetics 88 (2), 138-149, 2011
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute
A novel mutation of IL1RN in the deficiency of interleukin‐1 receptor antagonist syndrome: Description of two unrelated cases from Brazil
AA Jesus, M Osman, CA Silva, PW Kim, TH Pham, M Gadina, B Yang, ...
Arthritis & Rheumatism 63 (12), 4007-4017, 2011
强制性开放获取政策： US National Institutes of Health
Neutrophil dysfunction in a family with a SAPHO syndrome–like phenotype
PJ Ferguson, MA Lokuta, HI El‐Shanti, L Muhle, X Bing, A Huttenlocher
Arthritis & Rheumatism: Official Journal of the American College of …, 2008
强制性开放获取政策： US National Institutes of Health
Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction
LP Sowers, L Loo, Y Wu, E Campbell, JD Ulrich, S Wu, L Paemka, ...
Molecular psychiatry 18 (10), 1077-1089, 2013
强制性开放获取政策： US National Institutes of Health
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
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase
L Paemka, VB Mahajan, SN Ehaideb, JM Skeie, MC Tan, S Wu, AJ Cox, ...
PLoS genetics 11 (3), e1005022, 2015
强制性开放获取政策： US National Institutes of Health, National Health and Medical Research …
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders
L Paemka, VB Mahajan, JM Skeie, LP Sowers, SN Ehaideb, ...
PloS one 8 (12), e80737, 2013
强制性开放获取政策： US National Institutes of Health
Breakpoint localization using array‐CGH in three siblings with an unbalanced 4q; 16q translocation and childhood apraxia of speech (CAS)
LD Shriberg, KJ Jakielski, H El‐Shanti
American Journal of Medical Genetics Part A 146 (17), 2227-2233, 2008
强制性开放获取政策： US National Institutes of Health
Majeed Syndrome: A review of the clinical, genetic and immunologic features
PJ Ferguson, H El-Shanti
Biomolecules 11 (3), 367, 2021
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 …
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
TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis
ML Tung, B Chandra, J Kotlarek, M Melo, E Phillippi, CM Justice, A Musolf, ...
Genes 13 (9), 1649, 2022
强制性开放获取政策： US National Institutes of Health
A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant
A Garg, H El-Shanti, C Xing, Z Zhou, M Abujbara, K Al-Rashed, ...
Journal of the Endocrine Society 4 (8), bvaa088, 2020
强制性开放获取政策： US National Institutes of Health
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