검색어 : 통합검색[Neurogenetics]
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911
- Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69
- Sadr, Zahra; Ghasemi, Aida; Rohani, Mohammad; Khorram Khorshid, Hamid Reza; Habibi-Kavashkohie, Mohammad Reza; Mohammadi, Yusuf; Alavi, Afagh; ; (Neurogenetics, v.26, 2025, pp.12)
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912
- RETRACTED ARTICLE: Impact of flexible assertive community treatment model (FACT) on community rehabilitation of schizophrenia in Southern China
- Zhao, Yinglin; Zheng, Shaoxiong; Zhang, Handi; Zhang, Yinnan; Wang, Zidong; Huang, Qingjun; ; (Neurogenetics, v.25, 2024, pp.481-486)
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913
- ABCB1 c.3435 C > T (rs1045642) as a biomarker for carbamazepine efficacy and toxicity in Algerian patients with epilepsy: initial findings report
- Riffi, Rachda; Boughrara, Wefa; Aberkane, Meriem Samia; Ilias, Wassila; Bouchetara, Mohamed Sofiane; Berrebbah, Amel Alioua; Belhoucine, Fatma; Chentouf, Amina; ; (Neurogenetics, v.26, 2025, pp.29)
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914
- Migraine genetics: current findings and future lines of research
- Persico, A. M.; Verdecchia, M.; Pinzone, V.; Guidetti, V.; ; (Neurogenetics, v.16, 2015, pp.77-95)
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915
- A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibility
- Cox, Hannah C.; Lea, Rod A.; Bellis, Claire; Carless, Melanie; Dyer, Thomas D.; Curran, Joanne; Charlesworth, Jac; Macgregor, Stuart; Nyholt, Dale; Chasman, Daniel; Ridker, Paul M.; Schü rks, Markus; Blangero, John; Griffiths, Lyn R.; ; (Neurogenetics, v.13, 2012, pp.261-266)
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916
- Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the <i>RNF135-SUZ12</i> chimeric gene
- Tritto, Viviana; Grilli, Federico; Milani, Donatella; Riva, Paola; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Via Fratelli Cervi 93, 20054 Segrate, Italy; Dipartimento Donna-Bambino-Neonato, UOSD Pediatria ad Alta Intensità di Cura, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Via della Commenda 9, 20122 Milan, Italy; Dipartimento Donna-Bambino-Neonato, UOSD Pediatria ad Alta Intensità di Cura, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Via della Commenda 9, 20122 Milan, Italy; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Via Fratelli Cervi 93, 20054 Segrate, Italy; (Neurogenetics, v.24, 2023, pp.181-188)
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917
- GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review
- Falsaperla, Raffaele; Sortino, Vincenzo; Vitaliti, Giovanna; Privitera, Grete Francesca; Ruggieri, Martino; Fusto, Gaia; Pappalardo, Xena Giada; ; (Neurogenetics, v.25, 2024, pp.69-78)
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918
- MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways
- Paciorkowski, Alex R.; Traylor, Ryan N.; Rosenfeld, Jill A.; Hoover, Jacqueline M.; Harris, Catharine J.; Winter, Susan; Lacassie, Yves; Bialer, Martin; Lamb, Allen N.; Schultz, Roger A.; Berry-Kravis, Elizabeth; Porter, Brenda E.; Falk, Marni; Venkat, Anu; Vanzo, Rena J.; Cohen, Julie S.; Fatemi, Ali; Dobyns, William B.; Shaffer, Lisa G.; Ballif, Blake C.; Marsh, Eric D.; ; (Neurogenetics, v.14, 2013, pp.99-111)
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919
- Reply to ‘Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant’
- Isohanni, Pirjo; Carroll, Christopher J.; Jackson, Christopher B.; Pohjanpelto, Max; Lö nnqvist, Tuula; Suomalainen, Anu; ; (Neurogenetics, v.19, 2018, pp.133-134)
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920
- Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis
- Grü newald, Anne; Breedveld, Guido J.; Lohmann-Hedrich, Katja; Rohé , Christan F.; Kö nig, Inke R.; Hagenah, Johann; Vanacore, Nicola; Meco, Giuseppe; Antonini, Angelo; Goldwurm, Stefano; Lesage, Suzanne; Dü rr, Alexandra; Binkofski, Ferdinand; Siebner, Hartwig; Mü nchau, Alexander; Brice, Alexis; Oostra, Ben A.; Klein, Christine; Bonifati, Vincenzo; ; (Neurogenetics, v.8, 2007, pp.103-109)
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