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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 3, 2024. (Total: 234028Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Intellectual Disability and RAB39B[original query]
High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.
Neurobiology of aging 2015 May 36 (5): 2004.e9-2004.e15.
Nishioka Kenya, Oyama Genko, Yoshino Hiroyo, Li Yuanzhe, Matsushima Takashi, Takeuchi Chisen, Mochizuki Yoko, Mori-Yoshimura Madoka, Murata Miho, Yamasita Chikara, Nakamura Norimichi, Konishi Yohei, Ohi Kazuki, Ichikawa Keiji, Terada Tatsuhiro, Obi Tomokazu, Funayama Manabu, Saiki Shinji, Hattori Nobuta
Novel RAB39B variant associated intellectual disability and levodopa-responsive young-onset parkinsonism.
Parkinsonism & related disorders 2023 10 116 105855.
Ali Abusrair, Adriana Mititelu, Gerald Pfeffer, Lisa Rosenegger, Camila C Aqui
Contribution of Rare and Potentially Functionally Relevant Sequence Variants in Schizophrenia Risk-Locus Xq28,distal.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2024 10 e33011.
I Claus, S Sivalingam, A C Koller, A Weiß, C M Mathey, L Sindermann, D Klein, L Henschel, K U Ludwig, P Hoffmann, A Heimbach, S Heilmann-Heimbach, H Vedder, J Kammerer-Ciernioch, T Stürmer, F Streit, A Maaser-Hecker, I Nenadi?, B T Baune, A M Hartmann, B Konte, I Giegling, U Heilbronner, M Wagner, A Philipsen, B Schmidt, D Rujescu, A Buness, T G Schulze, M Rietschel, A J Forstner, M M Nöthen, F Degenhar
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