검색어 : 통합검색[Neurogenetics]
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, 95/100 페이지
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941
- Confirmed association between monoamine oxidase A molecular polymorphisms and Sudden Infant Death Syndrome
- Filonzi, Laura; Magnani, Cinzia; Nonnis Marzano, Francesco; ; (Neurogenetics, v.12, 2011, pp.91-92)
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942
- First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking
- Rodrí guez-Garcí a, Marí a Elena; Martí n-Herná ndez, Elena; de Aragó n, Ana Martí nez; Garcí a-Silva, Marí a Teresa; Quijada-Fraile, Pilar; Arenas, Joaquí n; Martí n, Miguel A.; Martí nez-Azorí n, Francisco; ; (Neurogenetics, v.17, 2016, pp.51-56)
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943
- Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization
- Edvardson, Simon; Wang, Haibo; Dor, Talya; Atawneh, Osamah; Yaacov, Barak; Gartner, Jutta; Cinnamon, Yuval; Chen, Songhai; Elpeleg, Orly; ; (Neurogenetics, v.17, 2016, pp.25-30)
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944
- Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy
- Spiegel, Ronen; Shaag, Avraham; Shalev, Stavit; Elpeleg, Orly; ; (Neurogenetics, v.17, 2016, pp.187-190)
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945
- Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation
- Micalizzi, Alessia; Moroni, Isabella; Ginevrino, Monia; Biagini, Tommaso; Mazza, Tommaso; Romani, Marta; Valente, Enza Maria; ; (Neurogenetics, v.17, 2016, pp.191-195)
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946
- Age at onset in Huntington’s disease: replication study on the associations of ADORA2A, HAP1 and OGG1
- Taherzadeh-Fard, Elahe; Saft, Carsten; Wieczorek, Stefan; Epplen, Jö rg T.; Arning, Larissa; ; (Neurogenetics, v.11, 2010, pp.435-439)
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947
- Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons
- Soderblom, Cynthia; Stadler, Julia; Jupille, Henri; Blackstone, Craig; Shupliakov, Oleg; Hanna, Michael C.; ; (Neurogenetics, v.11, 2010, pp.369-378)
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948
- Distal myopathy due to TCAP variants in four unrelated Chinese patients
- Lv, Xiaoqing; Gao, Fei; Dai, Tingjun; Zhao, Dandan; Jiang, Wei; Geng, Hongzhi; Liu, Fuchen; Lin, Pengfei; Yan, Chuanzhu; ; (Neurogenetics, v.22, 2021, pp.1-10)
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949
- Sudden unexpected death with rare compound heterozygous variants in PRICKLE1
- Hata, Yukiko; Yoshida, Koji; Nishida, Naoki; ; (Neurogenetics, v.20, 2019, pp.39-43)
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950
- Acknowledgement to referees 2017/2018
- ; ; (Neurogenetics, v.19, 2018, pp.263-264)
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