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Year | Number of Results |
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2019 | 2 |
2020 | 1 |
2021 | 4 |
2022 | 1 |
2024 | 0 |
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Page 1
Microcephaly and intracranial calcifications: Not always TORCH infection!
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.
Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients.
Ali A, Almesmari FSA, Dhahouri NA, Saleh Ali AM, Aldhanhani MAAMA, Vijayan R, Al Tenaiji A, Al Shamsi A, Hertecant J, Al Jasmi F.
Ali A, et al. Among authors: al tenaiji a.
Genes (Basel). 2021 Aug 27;12(9):1334. doi: 10.3390/genes12091334.
Genes (Basel). 2021.
PMID: 34573316
Free PMC article.
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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: al tenaiji a.
Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11.
Hum Mutat. 2021.
PMID: 33847017
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SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Grüning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Işık E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, Al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM; Genomics England Research Consortium; Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang RB, Tartaglia M.
Lin YC, et al. Among authors: al tenaiji amj.
Am J Hum Genet. 2021 Jan 7;108(1):115-133. doi: 10.1016/j.ajhg.2020.11.015. Epub 2020 Dec 11.
Am J Hum Genet. 2021.
PMID: 33308444
Free PMC article.
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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Shao DD, Straussberg R, Ahmed H, Khan A, Tian S, Hill RS, Smith RS, Majmundar AJ, Ameziane N, Neil JE, Yang E, Al Tenaiji A, Jamuar SS, Schlaeger TM, Al-Saffar M, Hovel I, Al-Shamsi A, Basel-Salmon L, Amir AZ, Rento LM, Lim JY, Ganesan I, Shril S, Evrony G, Barkovich AJ, Bauer P, Hildebrandt F, Dong M, Borck G, Beetz C, Al-Gazali L, Eyaid W, Walsh CA.
Shao DD, et al. Among authors: al tenaiji a.
Genet Med. 2021 Jun;23(6):1158-1162. doi: 10.1038/s41436-021-01097-x. Epub 2021 Feb 2.
Genet Med. 2021.
PMID: 33531666
Free PMC article.
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A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene.
Mohamed FE, Ali A, Al-Tenaiji A, Al-Jasmi A, Al-Jasmi F.
Mohamed FE, et al. Among authors: al tenaiji a.
J Mol Neurosci. 2022 Jun;72(6):1322-1333. doi: 10.1007/s12031-022-01987-y. Epub 2022 Mar 22.
J Mol Neurosci. 2022.
PMID: 35316504
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Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association.
Kumar G, Nair R, Hendawy BS, AlShkeili OA, Alabdouli AA, Ali AMA, AlTenaiji AMJ.
Kumar G, et al.
CEN Case Rep. 2019 Aug;8(3):173-177. doi: 10.1007/s13730-019-00387-3. Epub 2019 Feb 12.
CEN Case Rep. 2019.
PMID: 30747351
Free PMC article.
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