검색어 : 통합검색[Neurogenetics]
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901
- A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations
- Có rdova-Fletes, Carlos; Domí nguez, Ma. Guadalupe; Delint-Ramirez, Ilse; Martí nez-Rodrí guez, Herminia G.; Rivas-Estilla, Ana Marí a; Barros-Nú ñ ez, Patricio; Ortiz-Ló pez, Rocí o; Neira, Vivian Alejandra; ; (Neurogenetics, v.16, 2015, pp.287-298)
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902
- Novel recessive myotilin mutation causes severe myofibrillar myopathy
- Schessl, Joachim; Bach, Elisa; Rost, Simone; Feldkirchner, Sarah; Kubny, Christiana; Mü ller, Stefan; Hanisch, Franz-Georg; Kress, Wolfram; Schoser, Benedikt; ; (Neurogenetics, v.15, 2014, pp.151-156)
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903
- Splice variants of the Alzheimer’s disease beta-secretase, BACE1
- Holsinger, R. M. Damian; Goense, Nelleke; Bohorquez, John; Strappe, Padraig; ; (Neurogenetics, v.14, 2013, pp.1-9)
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904
- A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy
- Kashani, Alireza; Thiffault, Isabelle; Dilenge, Marie-Emmanuelle; Saint-Martin, Christine; Guerrero, Kether; Tran, Luan T.; Shoubridge, Eric; van der Knaap, Marjo S.; Braverman, Nancy; Bernard, Geneviè ve; ; (Neurogenetics, v.15, 2014, pp.161-164)
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905
- X-linked CMT: genes and gene loci in an Australian cohort
- Brewer, Megan Hwa; Chaudhry, Rabia; McDowall, Keta; Chu, Shannon; Kowalski, Bartosz; Polly, Patsie; Nicholson, Garth; Kennerson, Marina; ; (Neurogenetics, v.11, 2010, pp.267-269)
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906
- ACRC codes for a novel nuclear protein with unusual acidic repeat tract and maps to DYT3 (dystonia parkinsonism) critical interval in Xq13.1
- Nolte, Dagmar; Ramser, Juliane; Niemann, Stephan; Lehrach, Hans; Sudbrak, Ralf; Mü ller, Ulrich; ; (Neurogenetics, v.3, 2001, pp.207-213)
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907
- Cortical gene expression: prognostic value for seizure outcome following temporal lobectomy and amygdalohippocampectomy
- Gallek, Matthew J.; Skoch, Jesse; Ansay, Tracy; Behbahani, Mandana; Mount, David; Manziello, Ann; Witte, Marlys; Bernas, Michael; Labiner, David M.; Weinand, Martin E.; ; (Neurogenetics, v.17, 2016, pp.211-218)
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908
- Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations
- Brownstein, Catherine A.; Beggs, Alan H.; Rodan, Lance; Shi, Jiahai; Towne, Meghan C.; Pelletier, Renee; Cao, Siqi; Rosenberg, Paul A.; Urion, David K.; Picker, Jonathan; Tan, Wen-Hann; Agrawal, Pankaj B.; ; (Neurogenetics, v.17, 2016, pp.11-16)
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909
- Transcriptional regulation of long-term potentiation
- Bliim, Nicola; Leshchyns’ka, Iryna; Sytnyk, Vladimir; Janitz, Michael; ; (Neurogenetics, v.17, 2016, pp.201-210)
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910
- Identification of CACNA1A large deletions in four patients with episodic ataxia
- Riant, Florence; Lescoat, Christelle; Vahedi, Katayoun; Kaphan, Elsa; Toutain, Annick; Soisson, Thierry; Wiener-Vacher, Sylvette R.; Tournier-Lasserve, Elisabeth; ; (Neurogenetics, v.11, 2010, pp.101-106)
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