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Page 1
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Küry S, et al. Among authors: milla ss. Genet Med. 2022 Sep;24(9):1941-1951. doi: 10.1016/j.gim.2022.05.009. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35678782 Free article.
Rare presentation of four primary pediatric cardiac tumors.
Schaffer LR, Caltharp SA, Milla SS, Kogon BF, Cundiff CA, Dalal A, Quigley PC, Shehata BM. Schaffer LR, et al. Among authors: milla ss. Cardiovasc Pathol. 2016 Jan-Feb;25(1):72-7. doi: 10.1016/j.carpath.2015.08.011. Epub 2015 Aug 31. Cardiovasc Pathol. 2016. PMID: 26419627
Rate of Anti-NMDA Receptor Encephalitis in Ovarian Teratomas.
Li JH, Milla SS, Gombolay GY. Li JH, et al. Among authors: milla ss. Neuropediatrics. 2022 Apr;53(2):133-135. doi: 10.1055/s-0041-1740352. Epub 2021 Dec 6. Neuropediatrics. 2022. PMID: 34872133 Free PMC article.
80 results