검색어 : 통합검색[Neurogenetics]
총 12,110건 중 1,000건 출력
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991
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Structural genomic variation in ischemic stroke
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Matarin, Mar;
Simon-Sanchez, Javier;
Fung, Hon-Chung;
Scholz, Sonja;
Gibbs, J. Raphael;
Hernandez, Dena G.;
Crews, Cynthia;
Britton, Angela;
Wavrant De Vrieze, Fabienne;
Brott, Thomas G.;
Brown Jr., Robert D.;
Worrall, Bradford B.;
Silliman, Scott;
Case, L. Douglas;
Hardy, John A.;
Rich, Stephen S.;
Meschia, James F.;
Singleton, Andrew B.;
;
(Neurogenetics,
v.9,
2008,
pp.101-108)
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992
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A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
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Johannsen, Jessika;
Kortü
m, Fanny;
Rosenberger, Georg;
Bokelmann, Kristin;
Schirmer, Markus A.;
Denecke, Jonas;
Santer, René
;
(Neurogenetics,
v.19,
2018,
pp.151-156)
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993
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The LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population
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Lu, Chin-Song;
Wu-Chou, Yah-Huei;
van Doeselaar, Marina;
Simons, Erik J.;
Chang, Hsiu-Chen;
Breedveld, Guido J.;
Di Fonzo, Alessio;
Chen, Rou-Shayn;
Weng, Yi-Hsin;
Lai, Szu-Chia;
Oostra, Ben A.;
Bonifati, Vincenzo;
;
(Neurogenetics,
v.9,
2008,
pp.271-276)
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994
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A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature
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Chouery, Eliane;
Mehawej, Cybel;
Megarbane, Andre;
;
(Neurogenetics,
v.23,
2022,
pp.85-90)
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995
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Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene
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Shahrour, Maher Awni;
Ashhab, Motee;
Edvardson, Simon;
Gur, Michal;
Abu-Libdeh, Bassam;
Elpeleg, Orly;
;
(Neurogenetics,
v.18,
2017,
pp.135-139)
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996
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Suggestive evidence on chromosomes 2 and 19 for HTR1A-independent linkage of genes to major depression
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Abkevich, Victor;
Neff, Chris D.;
Potter, Jennifer;
Riley, Robin;
Shattuck, Donna;
Katz, David A.;
;
(Neurogenetics,
v.11,
2010,
pp.271-272)
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997
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Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation
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Carecchio, Miryam;
Picillo, Marina;
Valletta, Lorella;
Elia, Antonio E.;
Haack, Tobias B.;
Cozzolino, Autilia;
Vitale, Annalisa;
Garavaglia, Barbara;
Iuso, Arcangela;
Bagella, Caterina F.;
Pappatà
, Sabina;
Barone, Paolo;
Prokisch, Holger;
Romito, Luigi;
Tiranti, Valeria;
;
(Neurogenetics,
v.18,
2017,
pp.175-178)
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998
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The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians
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Speer, M.C.;
Worley, G.;
Mackey, J.F.;
Melvin, E.;
Oakes, W.J.;
George, T.M.;
;
(Neurogenetics,
v.1,
1997,
pp.149-150)
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999
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Transcript map of the candidate region for HSNI with cough and gastroesophageal reflux on chromosome 3p and exclusion of candidate genes
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Kok, Cindy;
Kennerson, Marina L.;
Myers, Simon J.;
Nicholson, Garth A.;
;
(Neurogenetics,
v.5,
2004,
pp.197-200)
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1000
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Towards a transcriptome definition of microglial cells
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Moran, L. B.;
Duke, D. C.;
Turkheimer, F. E.;
Banati, R. B.;
Graeber, M. B.;
;
(Neurogenetics,
v.5,
2004,
pp.95-108)