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[NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL].
Nasser Samra N, Morani I, Bayan H, Bakry D, Shaalan M, Saadi H, Beni Shrem S, Sawaed A, Kok G, Muffels IJ, Fuchs SA, Shapira-Rootman M, Mor-Shaked H, Mandel H. Nasser Samra N, et al. Among authors: kok g. Harefuah. 2023 Jun;162(6):344-351. Harefuah. 2023. PMID: 37394435 Hebrew.
Response to Shen et al.
Kok G, van Karnebeek CDM, Fuchs SA. Kok G, et al. Genet Med. 2022 Feb;24(2):506-507. doi: 10.1016/j.gim.2021.09.022. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906483 Free article. No abstract available.
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.
Ravel JM, Dreumont N, Mosca P, Smith DEC, Mendes MI, Wiedemann A, Coelho D, Schmitt E, Rivière JB, Tran Mau-Them F, Thevenon J, Kuentz P, Polivka M, Fuchs SA, Kok G, Thauvin-Robinet C, Guéant JL, Salomons GS, Faivre L, Feillet F. Ravel JM, et al. Among authors: kok g. Hum Mutat. 2021 Dec;42(12):1576-1583. doi: 10.1002/humu.24285. Epub 2021 Oct 4. Hum Mutat. 2021. PMID: 34570399
Treatment of ARS deficiencies with specific amino acids.
Kok G, Tseng L, Schene IF, Dijsselhof ME, Salomons G, Mendes MI, Smith DEC, Wiedemann A, Canton M, Feillet F, de Koning TJ, Boothe M, Dean J, Kassel R, Ferreira EA, van den Born M, Nieuwenhuis EES, Rehmann H, Terheggen-Lagro SWJ, van Karnebeek CDM, Fuchs SA. Kok G, et al. Genet Med. 2021 Nov;23(11):2202-2207. doi: 10.1038/s41436-021-01249-z. Epub 2021 Jun 30. Genet Med. 2021. PMID: 34194004 Free PMC article.
Response to Shen and Zou.
Kok G, van Karnebeek CDM, Fuchs SA. Kok G, et al. Genet Med. 2021 Mar;23(3):589-590. doi: 10.1038/s41436-020-01014-8. Epub 2020 Oct 22. Genet Med. 2021. PMID: 33087890 Free article. No abstract available.
Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes.
Fuchs SA, Schene IF, Kok G, Jansen JM, Nikkels PGJ, van Gassen KLI, Terheggen-Lagro SWJ, van der Crabben SN, Hoeks SE, Niers LEM, Wolf NI, de Vries MC, Koolen DA, Houwen RHJ, Mulder MF, van Hasselt PM. Fuchs SA, et al. Among authors: kok g. Genet Med. 2021 Oct;23(10):2024. doi: 10.1038/s41436-020-00966-1. Genet Med. 2021. PMID: 32934367 Free PMC article. No abstract available.
Possibilities and Pitfalls of Social Media for Translational Medicine.
Dijkstra S, Kok G, Ledford JG, Sandalova E, Stevelink R. Dijkstra S, et al. Among authors: kok g. Front Med (Lausanne). 2018 Dec 6;5:345. doi: 10.3389/fmed.2018.00345. eCollection 2018. Front Med (Lausanne). 2018. PMID: 30574495 Free PMC article.
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