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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 12, 2024. (Total: 234319Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Leukoencephalopathies and NOTCH3[original query]
Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.
Clinical genetics 2018 Apr .
Kunii M, Doi H, Ishii Y, Ohba C, Tanaka K, Tada M, Fukai R, Hashiguchi S, Kishida H, Ueda N, Kudo Y, Kugimoto C, Nakano T, Udaka N, Miyatake S, Miyake N, Saitsu H, Ito Y, Takahashi K, Nakamura H, Tomita-Katsumoto A, Takeuchi H, Koyano S, Matsumoto N, Tanaka
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.
Annals of neurology 2019 Aug .
Okubo Masaki, Doi Hiroshi, Fukai Ryoko, Fujita Atsushi, Mitsuhashi Satomi, Hashiguchi Shunta, Kishida Hitaru, Ueda Naohisa, Morihara Keisuke, Ogasawara Akihiro, Kawamoto Yuko, Takahashi Tatsuya, Takahashi Keita, Nakamura Haruko, Kunii Misako, Tada Mikiko, Katsumoto Atsuko, Fukuda Hiromi, Mizuguchi Takeshi, Miyatake Satoko, Miyake Noriko, Suzuki Junichiro, Ito Yasuhiro, Sone Jun, Sobue Gen, Takeuchi Hideyuki, Matsumoto Naomichi, Tanaka Fumia
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.
Brain : a journal of neurology 2022 11 .
Wu Chujun, Wang Mengwen, Wang Xingao, Li Wei, Li Shaowu, Chen Bin, Niu Songtao, Tai Hongfei, Pan Hua, Zhang Zaiqia
Input of exome sequencing in early-onset cerebral amyloid angiopathy.
Alzheimer's & dementia (Amsterdam, Netherlands) 2024 11 16 (4): e70027.
Lou Grangeon, Camille Charbonnier, Stéphane Rousseau, Anne Claire Richard, Olivier Quenez, Aline Zarea, Anne Boland, Robert Olaso, Jean-François Deleuze, , Elisabeth Tournier-Lasserve, Gael Nicolas, David Wall
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