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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 5, 2023. (Total: 223688Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Mental Retardation and NSD1[original query]
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
American journal of medical genetics. Part A 2005 Apr 134 (3): 247-53.
Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero G B, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco E Lucci, Neri G, Pierluigi M, Bricarelli F Dagna, Grasso M, Faravelli Frances
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
Journal of human genetics 2012 Mar 57 (3): 207-11.
Yoneda Yuriko, Saitsu Hirotomo, Touyama Mayumi, Makita Yoshio, Miyamoto Akie, Hamada Keisuke, Kurotaki Naohiro, Tomita Hiroaki, Nishiyama Kiyomi, Tsurusaki Yoshinori, Doi Hiroshi, Miyake Noriko, Ogata Kazuhiro, Naritomi Kenji, Matsumoto Naomic
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Journal of medical genetics 2020 4 57 (7): 466-474.
Chevarin Martin, Duffourd Yannis, A Barnard Rebecca, Moutton Sébastien, Lecoquierre François, Daoud Fatma, Kuentz Paul, Cabret Caroline, Thevenon Julien, Gautier Elodie, Callier Patrick, St-Onge Judith, Jouan Thibaud, Lacombe Didier, Delrue Marie Ange, Goizet Cyril, Morice-Picard Fanny, Van-Gils Julien, Munnich Arnold, Lyonnet Stanislas, Cormier-Daire Valérie, Baujat Geneviève, Holder Muriel, Petit Florence, Leheup Bruno, Odent Sylvie, Jouk Pierre-Simon, Lopez Gipsy, Geneviève David, Collignon Patrick, Martin-Coignard Dominique, Jacquette Aurélia, Perrin Laurence, Putoux Audrey, Sarrazin Elisabeth, Amarof Khadija, Missotte Isabelle, Coubes Christine, Jagadeesh Sujatha, Lapi Elisabetta, Demurger Florence, Goldenberg Alice, Doco-Fenzy Martine, Mignot Cyril, Héron Delphine, Jean-Marçais Nolwenn, Masurel Alice, El Chehadeh Salima, Marle Nathalie, Huet Frédéric, Binquet Christine, Collod-Beroud Gwenaëlle, Arnaud Pauline, Hanna Nadine, Boileau Catherine, Jondeau Guillaume, Olaso Robert, Lechner Doris, Poe Charlotte, Assoum Mirna, Carmignac Virginie, Duplomb Laurence, Tran Mau-Them Frédéric, Philippe Christophe, Vitobello Antonio, Bruel Ange-Line, Boland Anne, Deleuze Jean-François, Thauvin-Robinet Christel, Rivière Jean-Baptiste, O'Roak Brian J, Faivre Lauren
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