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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 24, 2025. (Total: 235602Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Syndrome and CHD8[original query]
Colorectal carcinomas with CpG island methylator phenotype 1 frequently contain mutations in chromatin regulators.
Gastroenterology 2014 Feb 146 (2): 530-38.e5.
Tahara Tomomitsu, Yamamoto Eiichiro, Madireddi Priyanka, Suzuki Hiromu, Maruyama Reo, Chung Woonbok, Garriga Judith, Jelinek Jaroslav, Yamano Hiro-O, Sugai Tamotsu, Kondo Yutaka, Toyota Minoru, Issa Jean-Pierre J, Estécio Marcos R
Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.
Breast cancer research and treatment 2017 Aug .
Li Jun, Li Hongyan, Makunin Igor, , Thompson Bryony A, Tao Kayoko, Young Erin L, Lopez Jacqueline, Camp Nicola J, Tavtigian Sean V, John Esther M, Andrulis Irene L, Khanna Kum Kum, Goldgar David, Chenevix-Trench Georg
Genetic investigation of patients with tall stature.
European journal of endocrinology 2019 Nov .
Vasco de Albuquerque Albuquerque Edoarda, Ferreira de Assis Funari Mariana, Pereira de Souza Quedas Elisângela, Sayuri Honjo Kawahira Rachel, Soares Jallad Raquel, Homma Thaís Kataoka, Martin Regina Matsunaga, Brito Vinicius Nahime, Malaquias Alexsandra Christianne, Lerario Antonio Marcondes, Rosenberg Carla, Victorino Krepischi Ana Cristina, Ae Kim Chong, Arnhold Ivo Jorge Prado, Jorge Alexander Augusto de Li
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
Human genetics 2020 1 139 (4): 499-512.
An Yu, Zhang Linna, Liu Wenwen, Jiang Yunyun, Chen Xue, Lan Xiaoping, Li Gan, Hang Qiang, Wang Jian, Gusella James F, Du Yasong, Shen Yipi
Oligogenic risk score for Gilles de la Tourette syndrome reveals a genetic continuum of tic disorders.
Journal of applied genetics 2025 1 .
Malgorzata Borczyk, Jakub P Fichna, Marcin Piechota, S?awomir Go?da, Mateusz Zi?ba, Dzesika Hoinkis, Pawe? Ci?szczyk, Michal Korostynski, Piotr Janik, Cezary ?ekanows
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