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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 - 10 (of 10 Records)

Query Trace: Syndrome and UBE3A[original query]
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
Genetic variation of UBE3A is associated with schizotypy in a population of typical individuals.
Psychiatry research 2019 Mar 275 94-99.
Salminen Iiro, Read Silven, Hurd Pete, Crespi Berna
[Clinical and genetic analysis of a patient with Angelman syndrome due to a frameshift variant of UBE3A gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 9 37 (10): 1120-1123.
Gao Zaifen, Lyu Yuqiang, Zhang Kaihui, Gao Min, Ma Jian, Wang Dong, Gai Zhongtao, Liu
[Analysis of clinical phenotype and genetic variants in a Chinese pedigree affected with Angelman syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 8 38 (8): 723-726.
Jiang Wei, Cao Li, Yu Jing, Na Xiaoxue, Yang Jiy
Delta power robustly predicts cognitive function in Angelman syndrome.
Annals of clinical and translational neurology 2021 5 8 (7): 1433-1445.
Ostrowski Lauren M, Spencer Elizabeth R, Bird Lynne M, Thibert Ronald, Komorowski Robert W, Kramer Mark A, Chu Catherine
Expanding the clinico-molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies.
Annals of human genetics 2021 11 86 (2): 71-79.
Iyer Gayatri R, Utage Prashant, Devi Radha Rama, Vattam Kiran Kumar, Hasan Qurratula
An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome.
Genes 2022 8 13 (8): .
Du Xiaonan, Wang Ji, Li Shuang, Ma Yu, Wang Tianqi, Wu Bingbing, Zhou Yuanfeng, Yu Lifei, Wang
Neurovisual profile in children affected by Angelman syndrome.
Brain & development 2022 11 45 (2): 117-125.
Galli Jessica, Loi Erika, Strobio Caterina, Micheletti Serena, Martelli Paola, Merabet Lotfi B, Pasini Nadia, Semeraro Francesco, Fazzi Elisa,
Bone health in children with Angelman syndrome at the ENCORE Expertise Center.
European journal of pediatrics 2023 10 .
Karen G C B Bindels-de Heus, Doesjka A Hagenaar, Sabine E Mous, Ilonka Dekker, Daniëlle C M van der Kaay, Gerthe F Kerkhof, Ype Elgersma, Henriette A Moll, Marie-Claire Y de W
Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region.
Brain and behavior 2024 4 14 (4): e3437.
Rabeya Akter Mim, Anjana Soorajkumar, Noor Kosaji, Muhammad Mizanur Rahman, Shaoli Sarker, Noushad Karuvantevida, Tamannyat Binte Eshaque, Md Atikur Rahaman, Amirul Islam, Mohammod Shah Jahan Chowdhury, Nusrat Shams, K M Furkan Uddin, Hosneara Akter, Mohammed Udd
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