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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.
Am J Hum Genet. 2017.
PMID: 29100089
Free PMC article.
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: quinquis d.
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.
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Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability.
Vuillaume ML, Cogné B, Jeanne M, Boland A, Ung DC, Quinquis D, Besnard T, Deleuze JF, Redon R, Bézieau S, Laumonnier F, Toutain A.
Vuillaume ML, et al. Among authors: quinquis d.
Clin Chim Acta. 2018 Oct;485:218-223. doi: 10.1016/j.cca.2018.06.048. Epub 2018 Jun 30.
Clin Chim Acta. 2018.
PMID: 29969624
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ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.
Nizon M, Küry S, Péréon Y, Besnard T, Quinquis D, Boisseau P, Marsaud T, Magot A, Mussini JM, Mayrargue E, Barbarot S, Bézieau S, Isidor B.
Nizon M, et al. Among authors: quinquis d.
Clin Genet. 2018 Jan;93(1):169-172. doi: 10.1111/cge.13048. Epub 2017 Aug 31.
Clin Genet. 2018.
PMID: 28471035
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