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Scattering of ultraviolet light by avian eggshells.
Ladouce M, Barakat T, Su BL, Deparis O, Mouchet SR. Ladouce M, et al. Among authors: barakat t. Faraday Discuss. 2020 Oct 1;223:63-80. doi: 10.1039/d0fd00034e. Epub 2020 Jul 28. Faraday Discuss. 2020. PMID: 32719833
Snuffbox Versus Wrist Radiocephalic Arteriovenous Fistulas: 10 Years Experience.
Elshikhawoda MSM, Raudonaitis A, Barakat T, Jararaa S, Okaz M, Keme ET, Roble AA, Ahmad W, Mansour SA, Elmallah A. Elshikhawoda MSM, et al. Among authors: barakat t. Cureus. 2024 Apr 2;16(4):e57442. doi: 10.7759/cureus.57442. eCollection 2024 Apr. Cureus. 2024. PMID: 38699137 Free PMC article.
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Bosman W, Franken GAC, de Las Heras J, Madariaga L, Barakat TS, Oostenbrink R, van Slegtenhorst M, Perdomo-Ramírez A, Claverie-Martín F, van Eerde AM, Vargas-Poussou R, Dubourg LD, González-Recio I, Martínez-Cruz LA, de Baaij JHF, Hoenderop JGJ. Bosman W, et al. Among authors: barakat ts. Sci Rep. 2024 Mar 22;14(1):6917. doi: 10.1038/s41598-024-57061-7. Sci Rep. 2024. PMID: 38519529 Free PMC article.
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: barakat ts. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.
Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, Maraval J, Bruel AL, Them FTM, Haack TB, Grasshoff U, Horber V, Schot R, van Slegtenhorst M, Wilke M, Barakat TS. Albuainain F, et al. Among authors: barakat ts. Eur J Hum Genet. 2024 Mar;32(3):350-356. doi: 10.1038/s41431-023-01530-6. Epub 2024 Jan 10. Eur J Hum Genet. 2024. PMID: 38200082 Free PMC article.
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Koch I, Slovik M, Zhang Y, Liu B, Rennie M, Konz E, Cogne B, Daana M, Davids L, Diets IJ, Gold NB, Holtz AM, Isidor B, Mor-Shaked H, Neira Fresneda J, Niederhoffer KY, Nizon M, Pfundt R, Simon M, Stegmann A, Guillen Sacoto MJ, Wevers M, Barakat TS, Yanovsky-Dagan S, Atanassov BS, Toth R, Gao C, Bustos F, Harel T. Koch I, et al. Among authors: barakat ts. Life Sci Alliance. 2024 Jan 5;7(3):e202302258. doi: 10.26508/lsa.202302258. Print 2024 Mar. Life Sci Alliance. 2024. PMID: 38182161 Free PMC article.
125 results