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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 8, 2024. (Total: 233355Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Seizures and SYNGAP1[original query]
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
Nature communications 2014 5 5595.
O'Roak B J, Stessman H A, Boyle E A, Witherspoon K T, Martin B, Lee C, Vives L, Baker C, Hiatt J B, Nickerson D A, Bernier R, Shendure J, Eichler E
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
Novel Mutation of SYNGAP1 Associated with Autosomal Dominant Mental Retardation 5 in a Chinese Patient.
Fetal and pediatric pathology 2018 12 37 (6): 400-403.
Pei Yuanyuan, Li Wei, Du Li, Wei Fengxia
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
Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations.
Frontiers in genetics 2022 12 13 957915.
Wang Yanxin, Lv Yuqiang, Li Zilong, Gao Min, Yang Xiaomeng, Li Yue, Shi Jianguo, Gao Zaifen, Liu Yi, Gai Zhongt
Key roles of C2/GAP domains in SYNGAP1-related pathophysiology.
Cell reports 2024 9 43 (9): 114733.
Danai Katsanevaki, Sally M Till, Ingrid Buller-Peralta, Mohammad Sarfaraz Nawaz, Susana R Louros, Vijayakumar Kapgal, Shashank Tiwari, Darren Walsh, Natasha J Anstey, Nina G Petrovi?, Alison Cormack, Vanesa Salazar-Sanchez, Anjanette Harris, William Farnworth-Rowson, Andrew Sutherland, Thomas C Watson, Siyan Dimitrov, Adam D Jackson, Daisy Arkell, Suryanarayan Biswal, Kosala N Dissanayake, Lindsay A M Mizen, Nikolas Perentos, Matt W Jones, Michael A Cousin, Sam A Booker, Emily K Osterweil, Sumantra Chattarji, David J A Wyllie, Alfredo Gonzalez-Sulser, Oliver Hardt, Emma R Wood, Peter C Ki
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