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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
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.
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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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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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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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: al tenaiji a.
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.
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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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A Review of the Water and Energy Sectors and the Use of a Nexus Approach in Abu Dhabi.
Paul P, Al Tenaiji AK, Braimah N.
Paul P, et al. Among authors: al tenaiji ak.
Int J Environ Res Public Health. 2016 Mar 25;13(4):364. doi: 10.3390/ijerph13040364.
Int J Environ Res Public Health. 2016.
PMID: 27023583
Free PMC article.
Review.
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