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Page 1
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
Bellos E, Santillo D, Vantourout P, Jackson HR, Duret A, Hearn H, Seeleuthner Y, Talouarn E, Hodeib S, Patel H, Powell O, Yeoh S, Mustafa S, Habgood-Coote D, Nichols S, Estramiana Elorrieta L, D'Souza G, Wright VJ, Estrada-Rivadeneyra D, Tremoulet AH, Dummer KB, Netea SA, Condino-Neto A, Lau YL, Núñez Cuadros E, Toubiana J, Holanda Pena M, Rieux-Laucat F, Luyt CE, Haerynck F, Mège JL, Chakravorty S, Haddad E, Morin MP, Metin Akcan Ö, Keles S, Emiroglu M, Alkan G, Tüter Öz SK, Elmas Bozdemir S, Morelle G, Volokha A, Kendir-Demirkol Y, Sözeri B, Coskuner T, Yahsi A, Gulhan B, Kanik-Yuksek S, Bayhan GI, Ozkaya-Parlakay A, Yesilbas O, Hatipoglu N, Ozcelik T, Belot A, Chopin E, Barlogis V, Sevketoglu E, Menentoglu E, Gayretli Aydin ZG, Bloomfield M, AlKhater SA, Cyrus C, Stepanovskiy Y, Bondarenko A, Öz FN, Polat M, Fremuth J, Lebl J, Geraldo A, Jouanguy E; COVID-19 Human Genetic Effort; DIAMONDS; EUCLIDS; Carter MJ, Wellman P, Peters M, Pérez de Diego R, Edwards LA, Chiu C, Noursadeghi M, Bolze A, Shimizu C, Kaforou M, Hamilton MS, Herberg JA, Schmitt EG, Rodriguez-Palmero A, Pujol A, Kim J, Cobat A, Abel L, Zhang SY, Casanova JL, Kuijpers TW, Burns JC, Levin M, Hayday AC, Sanc… See abstract for full author list ➔ Bellos E, et al. Among authors: lebl j. J Exp Med. 2024 Dec 2;221(12):e920240699. doi: 10.1084/jem.20240699. Epub 2024 Nov 22. J Exp Med. 2024. PMID: 39576310
Understanding the burden of weekly somatrogon injections compared with daily somatropin injections in children with growth hormone deficiency: a plain language summary of publication.
Maniatis AK, Carakushansky M, Galcheva S, Prakasam G, Fox LA, Dankovcikova A, Loftus J, Palladino AA, Resa MLA, Taylor CT, Dattani MT, Lebl J. Maniatis AK, et al. Among authors: lebl j. Ther Adv Endocrinol Metab. 2024 Nov 2;15:20420188241274363. doi: 10.1177/20420188241274363. eCollection 2024. Ther Adv Endocrinol Metab. 2024. PMID: 39493411 Free PMC article. Review.
Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene.
Plachy L, Dusatkova P, Maratova K, Amaratunga SA, Zemkova D, Neuman V, Kolouskova S, Obermannova B, Snajderova M, Sumnik Z, Lebl J, Pruhova S. Plachy L, et al. Among authors: lebl j. Endocr Connect. 2024 Aug 29;13(10):e240217. doi: 10.1530/EC-24-0217. Print 2024 Oct 1. Endocr Connect. 2024. PMID: 39078873 Free PMC article.
Genetic Testing of Children With Familial Tall Stature: Is it Worth Doing?
Gregorova K, Plachy L, Dusatkova P, Maratova K, Neuman V, Kolouskova S, Snajderova M, Obermannova B, Drnkova L, Soucek O, Lebl J, Sumnik Z, Pruhova S. Gregorova K, et al. Among authors: lebl j. J Clin Endocrinol Metab. 2024 Oct 15;109(11):e2009-e2015. doi: 10.1210/clinem/dgae067. J Clin Endocrinol Metab. 2024. PMID: 38307035
212 results