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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 1
2012 1
2013 1
2014 3
2015 2
2016 1
2017 2
2018 4
2019 1
2020 11
2021 11
2022 3
2023 4
2024 1

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41 results

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Page 1
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Derrick CJ, Szenker-Ravi E, Santos-Ledo A, Alqahtani A, Yusof A, Eley L, Coleman AHL, Tohari S, Ng AY, Venkatesh B, Alharby E, Mansard L, Bonnet-Dupeyron MN, Roux AF, Vaché C, Roume J, Bouvagnet P, Almontashiri NAM, Henderson DJ, Reversade B, Chaudhry B. Derrick CJ, et al. Among authors: almontashiri nam. Hum Mol Genet. 2024 Jan 7;33(2):150-169. doi: 10.1093/hmg/ddad171. Hum Mol Genet. 2024. PMID: 37815931 Free PMC article.
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Faqeih EA, Alghamdi MA, Almahroos MA, Alharby E, Almuntashri M, Alshangiti AM, Clément P, Calame DG, Qebibo L, Burglen L, Doco-Fenzy M, Mastrangelo M, Torella A, Manti F, Nigro V, Alban Z, Alharbi GS, Hashmi JA, Alraddadi R, Alamri R, Mitani T, Magalie B, Coban-Akdemir Z, Geckinli BB, Pehlivan D, Romito A, Karageorgou V, Martini J, Colin E, Bonneau D, Bertoli-Avella A, Lupski JR, Pastore A, Peake RWA, Dallol A, Alfadhel M, Almontashiri NAM. Faqeih EA, et al. Among authors: almontashiri nam. Genet Med. 2023 Feb;25(2):100323. doi: 10.1016/j.gim.2022.10.006. Epub 2022 Nov 19. Genet Med. 2023. PMID: 36401616 Free article.
Simultaneous detection and mutation surveillance of SARS-CoV-2 and multiple respiratory viruses by rapid field-deployable sequencing.
Bi C, Ramos-Mandujano G, Tian Y, Hala S, Xu J, Mfarrej S, Esteban CR, Delicado EN, Alofi FS, Khogeer A, Hashem AM, Almontashiri NAM, Pain A, Izpisua Belmonte JC, Li M. Bi C, et al. Among authors: almontashiri nam. Med. 2021 Jun 11;2(6):689-700.e4. doi: 10.1016/j.medj.2021.03.015. Epub 2021 Mar 31. Med. 2021. PMID: 33821249 Free PMC article.
Hyperammonemia, Lactic Acidosis, and Arrhythmia in a Newborn.
Almannai M, Aldehaimi A, Peake RWA, Almontashiri NAM. Almannai M, et al. Among authors: almontashiri nam. Clin Chem. 2021 Jan 8;67(1):327-330. doi: 10.1093/clinchem/hvaa151. Clin Chem. 2021. PMID: 33418581 No abstract available.
41 results