Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Intellectual Disability and SMARCA2[original query] |
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Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Human mutation 2013 Nov 34 (11): 1519-28. Santen Gijs W E, Aten Emmelien, Vulto-van Silfhout Anneke T, Pottinger Caroline, van Bon Bregje W M, van Minderhout Ivonne J H M, Snowdowne Ronelle, van der Lans Christian A C, Boogaard Merel, Linssen Margot M L, Vijfhuizen Linda, van der Wielen Michiel J R, Vollebregt M J Ellen, , Breuning Martijn H, Kriek Marjolein, van Haeringen Arie, den Dunnen Johan T, Hoischen Alexander, Clayton-Smith Jill, de Vries Bert B A, Hennekam Raoul C M, van Belzen Martine |
Phenotype and genotype in Nicolaides-Baraitser syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 2014 Sep 166C (3): 302-14. Sousa Sérgio B, Hennekam Raoul C, |
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. Journal of human genetics 2019 Sep . Sekiguchi Futoshi, Tsurusaki Yoshinori, Okamoto Nobuhiko, Teik Keng Wee, Mizuno Seiji, Suzumura Hiroshi, Isidor Bertrand, Ong Winnie Peitee, Haniffa Muzhirah, White Susan M, Matsuo Mari, Saito Kayoko, Phadke Shubha, Kosho Tomoki, Yap Patrick, Goyal Manisha, Clarke Lorne A, Sachdev Rani, McGillivray George, Leventer Richard J, Patel Chirag, Yamagata Takanori, Osaka Hitoshi, Hisaeda Yoshiya, Ohashi Hirofumi, Shimizu Kenji, Nagasaki Keisuke, Hamada Junpei, Dateki Sumito, Sato Takashi, Chinen Yasutsugu, Awaya Tomonari, Kato Takeo, Iwanaga Kougoro, Kawai Masahiko, Matsuoka Takashi, Shimoji Yoshikazu, Tan Tiong Yang, Kapoor Seema, Gregersen Nerine, Rossi Massimiliano, Marie-Laure Mathieu, McGregor Lesley, Oishi Kimihiko, Mehta Lakshmi, Gillies Greta, Lockhart Paul J, Pope Kate, Shukla Anju, Girisha Katta Mohan, Abdel-Salam Ghada M H, Mowat David, Coman David, Kim Ok Hwa, Cordier Marie-Pierre, Gibson Kate, Milunsky Jeff, Liebelt Jan, Cox Helen, El Chehadeh Salima, Toutain Annick, Saida Ken, Aoi Hiromi, Minase Gaku, Tsuchida Naomi, Iwama Kazuhiro, Uchiyama Yuri, Suzuki Toshifumi, Hamanaka Kohei, Azuma Yoshiteru, Fujita Atsushi, Imagawa Eri, Koshimizu Eriko, Takata Atsushi, Mitsuhashi Satomi, Miyatake Satoko, Mizuguchi Takeshi, Miyake Noriko, Matsumoto Naomic |
Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion. Cardiology in the young 2021 9 32 (5): 821-823. Foley Ross, Duignan Sophie, McArdle Linda, Betts David R, Green Andrew, McMahon Colin |
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea. BMC medical genomics 2021 10 14 (1): 254. Lee Yena, Choi Yunha, Seo Go Hun, Kim Gu-Hwan, Keum Changwon, Kim Yoo-Mi, Do Hyo-Sang, Choi Jeongmin, Choi In Hee, Yoo Han-Wook, Lee Beom H |
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- Page last updated:Apr 22, 2024
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