검색어 : 통합검색[Neurogenetics]
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921
- Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families
- Madia, Francesca; Striano, Pasquale; Di Bonaventura, Carlo; de Falco, Arturo; de Falco, Fabrizio A.; Manfredi, Mario; Casari, Giorgio; Striano, Salvatore; Minetti, Carlo; Zara, Federico; ; (Neurogenetics, v.9, 2008, pp.139-142)
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922
- Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease
- Guillet, Virginie; Gueguen, Naï g; Verny, Christophe; Ferre, Marc; Homedan, Chadi; Loiseau, Dominique; Procaccio, Vincent; Amati-Bonneau, Patrizia; Bonneau, Dominique; Reynier, Pascal; Chevrollier, Arnaud; ; (Neurogenetics, v.11, 2010, pp.127-133)
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923
- Acknowledgement to Referees 2013/2014
- ; ; (Neurogenetics, v.15, 2014, pp.295-295)
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924
- RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas
- Melean, German; Velasco, Ana; Herná ndez-Imaz, Elisabete; Rodrí guez-Á lvarez, Francisco Javier; Martí n, Yolanda; Valero, Ana; Herná ndez-Chico, Concepció n; ; (Neurogenetics, v.13, 2012, pp.267-274)
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925
- Mammalian sleep genetics
- Kelly, Jessica M.; Bianchi, Matt T.; ; (Neurogenetics, v.13, 2012, pp.287-326)
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926
- The documentation of consent and disclosure of neurogenetic testing outside clinical genetics
- Lo, C.; Martindale, J.; Hadjivassiliou, M.; Martin, P.; Dalton, A.; Bandmann, O.; ; (Neurogenetics, v.15, 2014, pp.19-21)
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927
- Assessment of microRNA-related SNP effects in the 3′ untranslated region of the IL22RA2 risk locus in multiple sclerosis
- Lill, Christina M.; Schilling, Marcel; Ansaloni, Sara; Schrö der, Julia; Jaedicke, Marian; Luessi, Felix; Schjeide, Brit-Maren M.; Mashychev, Andriy; Graetz, Christiane; Akkad, Denis A.; Gerdes, Lisa-Ann; Kroner, Antje; Blaschke, Paul; Hoffjan, Sabine; Winkelmann, Alexander; Dö rner, Thomas; Rieckmann, Peter; Steinhagen-Thiessen, Elisabeth; Lindenberger, Ulman; Chan, Andrew; Hartung, Hans-Peter; Aktas, Orhan; Lohse, Peter; Buttmann, Mathias; Kü mpfel, Tania; Kubisch, Christian; Zettl, Uwe K.; Epplen, Joerg T.; Zipp, Frauke; Bertram, Lars; ; (Neurogenetics, v.15, 2014, pp.129-134)
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928
- Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism
- Kawarai, Toshitaka; Pasco, Paul Matthew D.; Teleg, Rosalia A.; Kamada, Masaki; Sakai, Waka; Shimozono, Komei; Mizuguchi, Makoto; Tabuena, Daisy; Orlacchio, Antonio; Izumi, Yuishin; Goto, Satoshi; Lee, Lillian V.; Kaji, Ryuji; ; (Neurogenetics, v.14, 2013, pp.167-169)
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929
- Heterozygous mutation in 5?-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia
- Steinberger, Daniela; Blau, Nenad; Goriuonov, Dimitri; Bitsch, Juliane; Zuker, Michael; Hummel, Sibylla; M� ller, Ulrich; ; (Neurogenetics, v.5, 2004, pp.187-190)
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930
- A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes
- Kleopa, Kleopas A.; Georgiou, Domna-Maria; Nicolaou, Paschalis; Koutsou, Pantelitsa; Papathanasiou, Eleftherios; Kyriakides, Theodoros; Christodoulou, Kyproula; ; (Neurogenetics, v.5, 2004, pp.171-175)
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