Human Genome Epidemiology Literature Finder
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Records 1 - 4 (of 4 Records) |
| Query Trace: Syndrome and SYNGAP1[original query] |
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| Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (London, England) 2012 Nov 380 (9854): 1674-82. Rauch Anita, Wieczorek Dagmar, Graf Elisabeth, Wieland Thomas, Endele Sabine, Schwarzmayr Thomas, Albrecht Beate, Bartholdi Deborah, Beygo Jasmin, Di Donato Nataliya, Dufke Andreas, Cremer Kirsten, Hempel Maja, Horn Denise, Hoyer Juliane, Joset Pascal, Röpke Albrecht, Moog Ute, Riess Angelika, Thiel Christian T, Tzschach Andreas, Wiesener Antje, Wohlleber Eva, Zweier Christiane, Ekici Arif B, Zink Alexander M, Rump Andreas, Meisinger Christa, Grallert Harald, Sticht Heinrich, Schenck Annette, Engels Hartmut, Rappold Gudrun, Schröck Evelin, Wieacker Peter, Riess Olaf, Meitinger Thomas, Reis André, Strom Tim |
| Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure 2018 6 59 132-140. Kothur Kavitha, Holman Katherine, Farnsworth Elizabeth, Ho Gladys, Lorentzos Michelle, Troedson Christopher, Gupta Sachin, Webster Richard, Procopis Peter G, Menezes Manoj P, Antony Jayne, Ardern-Holmes Simone, Dale Russell C, Christodoulou John, Gill Deepak, Bennetts Bru |
| Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies. Seizure 2019 8 71 222-228. Kim Soo Yeon, Jang Se Song, Kim Jong-Il, Kim Hunmin, Hwang Hee, Choi Ji Eun, Chae Jong-Hee, Kim Ki Joong, Lim Byung Ch |
| New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. PloS one 2021 16 (10): e0258766. Aguilera Cinthia, Gabau Elisabeth, Ramirez-Mallafré Ariadna, Brun-Gasca Carme, Dominguez-Carral Jana, Delgadillo Veronica, Laurie Steve, Derdak Sophia, Padilla Natàlia, de la Cruz Xavier, Capdevila Núria, Spataro Nino, Baena Neus, Guitart Miriam, Ruiz An |
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