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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: fuchs sa. Harefuah. 2023 Jun;162(6):344-351. Harefuah. 2023. PMID: 37394435 Hebrew.
Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation.
Kok G, Schene IF, Ilcken EF, Alcaraz PS, Mendes MI, Smith DEC, Salomons G, Shehata S, Jans JJM, Maroofian R, Hoek TA, van Es RM, Rehmann H, Nieuwenhuis EES, Vos HR, Fuchs SA. Kok G, et al. Among authors: fuchs sa. Nucleic Acids Res. 2024 Dec 9:gkae1184. doi: 10.1093/nar/gkae1184. Online ahead of print. Nucleic Acids Res. 2024. PMID: 39657787
Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations.
Maddirevula S, Shagrani M, Ji AR, Horne CR, Young SN, Mather LJ, Alqahtani M, McKerlie C, Wood G, Potter PK, Abdulwahab F, AlSheddi T, van der Woerd WL, van Gassen KLI, AlBogami D, Kumar K, Muhammad Akhtar AS, Binomar H, Almanea H, Faqeih E, Fuchs SA, Scott JW, Murphy JM, Alkuraya FS. Maddirevula S, et al. Among authors: fuchs sa. Genet Med. 2024 Nov;26(11):101231. doi: 10.1016/j.gim.2024.101231. Epub 2024 Aug 9. Genet Med. 2024. PMID: 39132680
Enrichment of cell cycle pathways in progesterone-treated endometrial organoids of infertile women compared to fertile women.
Bui BN, Ardisasmita AI, van de Vliert FH, Abendroth MS, van Hoesel M, Mackens S, Fuchs SA, Nieuwenhuis EES, Broekmans FJM, Steba GS. Bui BN, et al. Among authors: fuchs sa. J Assist Reprod Genet. 2024 Sep;41(9):2405-2418. doi: 10.1007/s10815-024-03173-y. Epub 2024 Jul 12. J Assist Reprod Genet. 2024. PMID: 38995509 Free PMC article.
66 results