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- [21] Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystoniaPARKINSONISM & RELATED DISORDERS, 2023, 107Chen, Pin-Shiuan论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Neurol, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, Taipei, TaiwanWu, Meng-Chen论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Neurol, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Geriatr & Gerontol, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, Taipei, TaiwanTai, Chun-Hwei论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Neurol, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, Taipei, TaiwanChang, Yung-Yee论文数: 0 引用数: 0 h-index: 0机构: Kaohsiung Chang Gung Mem Hosp, Ctr Parkinson Dis, Kaohsiung, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, Taipei, TaiwanLan, Min-Yu论文数: 0 引用数: 0 h-index: 0机构: Kaohsiung Chang Gung Mem Hosp, Ctr Parkinson Dis, Kaohsiung, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, Taipei, TaiwanChen, Ying-Fa论文数: 0 引用数: 0 h-index: 0机构: Kaohsiung Chang Gung Mem Hosp, Ctr Parkinson Dis, Kaohsiung, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, Taipei, TaiwanLin, Han-, I论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Neurol, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, Taipei, TaiwanLee, Ni-Chung论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, Taipei, TaiwanLin, Chin-Hsien论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Neurol, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 100, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, Taipei, Taiwan
- [22] Phenotypic and mutational spectrum in dystonia genes: Insights from gene panel screeningEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1515 - 1517Thomsen, Mirja论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyMarth, Katrin论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Univ Hosp Rostock, Dept Neurol, Rostock, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyLoens, Sebastian论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Univ Lubeck, Inst Syst Motor Sci, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyEverding, Judith Charlotte论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Univ Hosp Schleswig Holstein, Dept Neurol, Campus Kiel, Kiel, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyJunker, Johanna论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Univ Hosp Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyBorngraeber, Friederike论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Dept Neurol, Berlin, Germany Univ Lubeck, Inst Neurogenet, Lubeck, Germany论文数: 引用数: h-index:机构:Jesus, Silvia论文数: 0 引用数: 0 h-index: 0机构: Univ Seville, Hosp Univ Virgen del Rocio, Serv Neurol & Neurofisiol, Unidad Trastornos Movimiento,CSIC, Seville, Spain Univ Lubeck, Inst Neurogenet, Lubeck, GermanyGelderblom, Mathias Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Neurol, Hamburg, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyOdorfer, Thorsten论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Wurzburg, Dept Neurol, Wurzburg, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyKuhlenbaeumer, Gregor论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Schleswig Holstein, Dept Neurol, Campus Kiel, Kiel, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyKim, Han-Joon论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Dept Neurol, Seoul, South Korea Univ Lubeck, Inst Neurogenet, Lubeck, GermanySchaeffer, Eva论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Schleswig Holstein, Dept Neurol, Campus Kiel, Kiel, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyBecktepe, Jos论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Schleswig Holstein, Dept Neurol, Campus Kiel, Kiel, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyKasten, Meike论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Univ Hosp Schleswig Holstein, Dept Psychiat, Campus Lubeck, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyBrueggemann, Norbert论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Univ Hosp Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyPfister, Robert论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, GermanyKollewe, Katja论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Dept Neurol, Hannover, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyKrauss, Joachim K.论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Dept Neurosurg, Hannover, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyLohmann, Ebba论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Tubingen, Germany Hanover Univ Mus Drama & Media, Inst Mus Physiol Musicians Med, Hannover, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyHinrichs, Frauke论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyBerg, Daniela论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Schleswig Holstein, Dept Neurol, Campus Kiel, Kiel, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyJeon, Beomseok论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Dept Neurol, Seoul, South Korea Univ Lubeck, Inst Neurogenet, Lubeck, GermanyBusch, Hauke论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Lubeck Inst Expt Dermatol, Med Syst Biol Grp, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyAltenmueller, Eckart论文数: 0 引用数: 0 h-index: 0机构: Hanover Univ Mus Drama & Media, Inst Mus Physiol Musicians Med, Hannover, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyRivera, Pablo Mir论文数: 0 引用数: 0 h-index: 0机构: Univ Seville, Hosp Univ Virgen del Rocio, Serv Neurol & Neurofisiol, Unidad Trastornos Movimiento,CSIC, Seville, Spain Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain Univ Lubeck, Inst Neurogenet, Lubeck, GermanyKamm, Christoph论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Rostock, Dept Neurol, Rostock, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyVolkmann, Jens论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Wurzburg, Dept Neurol, Wurzburg, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyZittel-Dirks, Simone论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Neurol, Hamburg, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyFerbert, Andreas论文数: 0 引用数: 0 h-index: 0机构: Klinikum Kassel, Dept Neurol, Kassel, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyZeuner, Kirsten论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Schleswig Holstein, Dept Neurol, Campus Kiel, Kiel, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyRolfs, Arndt论文数: 0 引用数: 0 h-index: 0机构: Univ Rostock, Fac Med, Rostock, Germany Agyany Pharmaceut, Jerusalem, Israel Univ Lubeck, Inst Neurogenet, Lubeck, GermanyBauer, Peter论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, Rostock, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyKuehn, Andrea论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Dept Neurol, Berlin, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyBaeumer, Tobias论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Syst Motor Sci, Lubeck, Germany Univ Hosp Schleswig Holstein, Dept Neurol, Campus Lubeck, Lubeck, Germany Univ Hosp Schleswig Holstein, Campus Lubeck, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyKlein, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, GermanyLohmann, Katja论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Univ Lubeck, Inst Neurogenet, Lubeck, Germany
- [23] Systematic mutational analysis of glucocerebrosidase gene in a Parkinson's disease population from Southern SpainMOVEMENT DISORDERS, 2015, 30 : S455 - S456Jesus, S.论文数: 0 引用数: 0 h-index: 0Gomez-Garre, P.论文数: 0 引用数: 0 h-index: 0Huertas-Fernandez, I.论文数: 0 引用数: 0 h-index: 0Bernal-Bernal, I.论文数: 0 引用数: 0 h-index: 0Bonilla-Toribio, M.论文数: 0 引用数: 0 h-index: 0Caceres-Redondo, M. T.论文数: 0 引用数: 0 h-index: 0Carrillo, F.论文数: 0 引用数: 0 h-index: 0Vargas-Gonzalez, L.论文数: 0 引用数: 0 h-index: 0Gomez-Llamas, M.论文数: 0 引用数: 0 h-index: 0Calderon, E.论文数: 0 引用数: 0 h-index: 0Carballo, M.论文数: 0 引用数: 0 h-index: 0Mir, P.论文数: 0 引用数: 0 h-index: 0
- [24] Mutational analysis of the TP63 gene in Mexican patients with syndromic and isolated ectrodactyly.AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 326 - 326Pozo-Molina, G论文数: 0 引用数: 0 h-index: 0机构: Hosp Manuel Gea Gonzalez, Dept Genet, Mexico City, DF, MexicoBerdon-Zapata, V论文数: 0 引用数: 0 h-index: 0机构: Hosp Manuel Gea Gonzalez, Dept Genet, Mexico City, DF, MexicoGranillo-Alvarez, M论文数: 0 引用数: 0 h-index: 0机构: Hosp Manuel Gea Gonzalez, Dept Genet, Mexico City, DF, MexicoValdes-Flores, M论文数: 0 引用数: 0 h-index: 0机构: Hosp Manuel Gea Gonzalez, Dept Genet, Mexico City, DF, MexicoGarcia-Ortiz, JE论文数: 0 引用数: 0 h-index: 0机构: Hosp Manuel Gea Gonzalez, Dept Genet, Mexico City, DF, MexicoCanun, S论文数: 0 引用数: 0 h-index: 0机构: Hosp Manuel Gea Gonzalez, Dept Genet, Mexico City, DF, MexicoPerez, N论文数: 0 引用数: 0 h-index: 0机构: Hosp Manuel Gea Gonzalez, Dept Genet, Mexico City, DF, MexicoKofman-Alfaro, S论文数: 0 引用数: 0 h-index: 0机构: Hosp Manuel Gea Gonzalez, Dept Genet, Mexico City, DF, MexicoZenteno, JC论文数: 0 引用数: 0 h-index: 0机构: Hosp Manuel Gea Gonzalez, Dept Genet, Mexico City, DF, Mexico
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- [26] Analysis of the CTNS gene in 32 cystinosis patients from SpainCLINICAL GENETICS, 2009, 76 (05) : 486 - 489Macias-Vidal, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Inst Bioquim Clin, Serv Bioquim & Genet Mol, Barcelona 08028, Spain Hosp Clin Barcelona, Inst Bioquim Clin, Serv Bioquim & Genet Mol, Barcelona 08028, SpainRodes, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Inst Bioquim Clin, Serv Bioquim & Genet Mol, Barcelona 08028, Spain Hosp Clin Barcelona, Inst Bioquim Clin, Serv Bioquim & Genet Mol, Barcelona 08028, SpainHernandez-Perez, J. M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Inst Bioquim Clin, Serv Bioquim & Genet Mol, Barcelona 08028, Spain CIBERER, Barcelona, Spain Hosp Clin Barcelona, Inst Bioquim Clin, Serv Bioquim & Genet Mol, Barcelona 08028, SpainVilaseca, M. A.论文数: 0 引用数: 0 h-index: 0机构: CIBERER, Barcelona, Spain Hosp St Joan de Deu, Dept Bioquim Clin, Barcelona, Spain Hosp Clin Barcelona, Inst Bioquim Clin, Serv Bioquim & Genet Mol, Barcelona 08028, SpainColl, M. J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Inst Bioquim Clin, Serv Bioquim & Genet Mol, Barcelona 08028, Spain CIBERER, Barcelona, Spain Hosp Clin Barcelona, Inst Bioquim Clin, Serv Bioquim & Genet Mol, Barcelona 08028, Spain
- [27] INVS GENE MUTATIONAL SCREENING IN PEDIATRIC PATIENTS WITH ISOLATED RENAL HYPODYSPLASIAPEDIATRIC NEPHROLOGY, 2018, 33 (10) : 1861 - 1861Negrisolo, Susanna论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Padova, Urol Unit, Dept Ontol & Surg Sci, Padua, Italy Univ Hosp Padova, Pediat Nephrol Dialysis & Transplant Unit, Dept Womens & Childrens Hlth, Padua, ItalyCarraro, Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Padova, Pediat Nephrol Dialysis & Transplant Unit, Dept Womens & Childrens Hlth, Padua, Italy Univ Hosp Padova, Pediat Nephrol Dialysis & Transplant Unit, Dept Womens & Childrens Hlth, Padua, ItalyFregonese, Giulia论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Padova, Pediat Nephrol Dialysis & Transplant Unit, Dept Womens & Childrens Hlth, Padua, Italy Univ Hosp Padova, Pediat Nephrol Dialysis & Transplant Unit, Dept Womens & Childrens Hlth, Padua, ItalyMeneghesso, Davide论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Padova, Pediat Nephrol Dialysis & Transplant Unit, Dept Womens & Childrens Hlth, Padua, Italy Univ Hosp Padova, Pediat Nephrol Dialysis & Transplant Unit, Dept Womens & Childrens Hlth, Padua, ItalyLongo, Germana论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Padova, Pediat Nephrol Dialysis & Transplant Unit, Dept Womens & Childrens Hlth, Padua, Italy Univ Hosp Padova, Pediat Nephrol Dialysis & Transplant Unit, Dept Womens & Childrens Hlth, Padua, ItalyCastagnetti, Marco论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Padova, Urol Unit, Dept Ontol & Surg Sci, Padua, Italy Univ Hosp Padova, Pediat Nephrol Dialysis & Transplant Unit, Dept Womens & Childrens Hlth, Padua, ItalyGamba, Piergiorgio论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Womens & Childrens Hlth Dept, Pediat Surg, Padua, Italy Univ Hosp Padova, Pediat Nephrol Dialysis & Transplant Unit, Dept Womens & Childrens Hlth, Padua, ItalyValle, Giorgio论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Cribi Biotechnol Ctr, Padua, Italy Univ Hosp Padova, Pediat Nephrol Dialysis & Transplant Unit, Dept Womens & Childrens Hlth, Padua, ItalyMurer, Luisa论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Padova, Pediat Nephrol Dialysis & Transplant Unit, Dept Womens & Childrens Hlth, Padua, Italy Univ Hosp Padova, Pediat Nephrol Dialysis & Transplant Unit, Dept Womens & Childrens Hlth, Padua, Italy
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