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Page 1
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Neuser S, et al. Among authors: elghazali g. Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11. Hum Mutat. 2021. PMID: 33847017
Microcephaly and intracranial calcifications: Not always TORCH infection!
Kumar G, Al Zoebie L, Duke C, Al Neyadi SM, Al Tenaiji A, ElGhazali G. Kumar G, et al. Among authors: elghazali g. J Paediatr Child Health. 2019 Aug;55(8):1000-1001. doi: 10.1111/jpc.14535. J Paediatr Child Health. 2019. PMID: 31386285 No abstract available.
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hernández A, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang Y, Burkhardt JK, Latour S, Chen B, ElGhazali G, Rao VK, Chinn IK, Lenardo MJ. Cook SA, et al. Among authors: elghazali g. Science. 2020 Jul 10;369(6500):202-207. doi: 10.1126/science.aay5663. Science. 2020. PMID: 32647003 Free PMC article.
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.
Díaz de Ståhl T, Sandgren J, Piotrowski A, Nord H, Andersson R, Menzel U, Bogdan A, Thuresson AC, Poplawski A, von Tell D, Hansson CM, Elshafie AI, Elghazali G, Imreh S, Nordenskjöld M, Upadhyaya M, Komorowski J, Bruder CE, Dumanski JP. Díaz de Ståhl T, et al. Among authors: elghazali g. Hum Mutat. 2008 Mar;29(3):398-408. doi: 10.1002/humu.20659. Hum Mutat. 2008. PMID: 18058796
HLA genetic study from United Arab Emirates (UAE), Abu Dhabi.
Arnaiz-Villena A, Yafei ZA, Juarez I, Palacio-Gruber J, Mahri AA, Alvares M, Lopez-Nares A, Nieto J, Al Seiari M, Martin-Villa JM, ElGhazali G. Arnaiz-Villena A, et al. Among authors: elghazali g. Hum Immunol. 2019 Jul;80(7):421-422. doi: 10.1016/j.humimm.2019.04.013. Epub 2019 Apr 24. Hum Immunol. 2019. PMID: 31029512
High-resolution HLA allele and haplotype frequencies in several unrelated populations determined by next generation sequencing: 17th International HLA and Immunogenetics Workshop joint report.
Creary LE, Sacchi N, Mazzocco M, Morris GP, Montero-Martin G, Chong W, Brown CJ, Dinou A, Stavropoulos-Giokas C, Gorodezky C, Narayan S, Periathiruvadi S, Thomas R, De Santis D, Pepperall J, ElGhazali GE, Al Yafei Z, Askar M, Tyagi S, Kanga U, Marino SR, Planelles D, Chang CJ, Fernández-Viña MA. Creary LE, et al. Among authors: elghazali ge. Hum Immunol. 2021 Jul;82(7):505-522. doi: 10.1016/j.humimm.2021.04.007. Epub 2021 May 24. Hum Immunol. 2021. PMID: 34030896 Free PMC article.
101 results