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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2013 | 1 |
2016 | 1 |
2018 | 1 |
2019 | 2 |
2020 | 1 |
2022 | 1 |
2024 | 0 |
PubMed (GeneRIF) for id: 113179
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Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.
Ann Hum Genet. 2022 Jul;86(4):181-194. doi: 10.1111/ahg.12460. Epub 2022 Feb 3.
Ann Hum Genet. 2022.
PMID: 35118659
Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder.
Ramos J, Proven M, Halvardson J, Hagelskamp F, Kuchinskaya E, Phelan B, Bell R, Kellner SM, Feuk L, Thuresson AC, Fu D.
Ramos J, et al.
RNA. 2020 Nov;26(11):1654-1666. doi: 10.1261/rna.076380.120. Epub 2020 Aug 6.
RNA. 2020.
PMID: 32763916
Free PMC article.
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Formation of tRNA Wobble Inosine in Humans Is Disrupted by a Millennia-Old Mutation Causing Intellectual Disability.
Ramos J, Han L, Li Y, Hagelskamp F, Kellner SM, Alkuraya FS, Phizicky EM, Fu D.
Ramos J, et al.
Mol Cell Biol. 2019 Sep 11;39(19):e00203-19. doi: 10.1128/MCB.00203-19. Print 2019 Oct 1.
Mol Cell Biol. 2019.
PMID: 31263000
Free PMC article.
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A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome.
Sharkia R, Zalan A, Jabareen-Masri A, Zahalka H, Mahajnah M.
Sharkia R, et al.
Eur J Med Genet. 2019 Nov;62(11):103549. doi: 10.1016/j.ejmg.2018.10.001. Epub 2018 Oct 6.
Eur J Med Genet. 2019.
PMID: 30296593
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ADAT3-related intellectual disability: Further delineation of the phenotype.
El-Hattab AW, Saleh MA, Hashem A, Al-Owain M, Asmari AA, Rabei H, Abdelraouf H, Hashem M, Alazami AM, Patel N, Shaheen R, Faqeih EA, Alkuraya FS.
El-Hattab AW, et al.
Am J Med Genet A. 2016 May;170A(5):1142-7. doi: 10.1002/ajmg.a.37578. Epub 2016 Feb 3.
Am J Med Genet A. 2016.
PMID: 26842963
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Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.
Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A, Masoodi TA, Alkuraya FS.
Alazami AM, et al.
J Med Genet. 2013 Jul;50(7):425-30. doi: 10.1136/jmedgenet-2012-101378. Epub 2013 Apr 25.
J Med Genet. 2013.
PMID: 23620220
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