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- [26] Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNASer(UCN) geneANNALS OF NEUROLOGY, 1998, 44 (04) : 635 - 640Jaksch, M论文数: 0 引用数: 0 h-index: 0机构: Acad Hosp Schwabing, Inst Clin Chem Diagnost Mol Biol & Mitochondrial, D-80804 Munich, GermanyKlopstock, T论文数: 0 引用数: 0 h-index: 0机构: Acad Hosp Schwabing, Inst Clin Chem Diagnost Mol Biol & Mitochondrial, D-80804 Munich, GermanyKurlemann, G论文数: 0 引用数: 0 h-index: 0机构: Acad Hosp Schwabing, Inst Clin Chem Diagnost Mol Biol & Mitochondrial, D-80804 Munich, GermanyDörner, M论文数: 0 引用数: 0 h-index: 0机构: Acad Hosp Schwabing, Inst Clin Chem Diagnost Mol Biol & Mitochondrial, D-80804 Munich, GermanyHofmann, S论文数: 0 引用数: 0 h-index: 0机构: Acad Hosp Schwabing, Inst Clin Chem Diagnost Mol Biol & Mitochondrial, D-80804 Munich, GermanyKleinle, S论文数: 0 引用数: 0 h-index: 0机构: Acad Hosp Schwabing, Inst Clin Chem Diagnost Mol Biol & Mitochondrial, D-80804 Munich, GermanyHegemann, S论文数: 0 引用数: 0 h-index: 0机构: Acad Hosp Schwabing, Inst Clin Chem Diagnost Mol Biol & Mitochondrial, D-80804 Munich, GermanyWeissert, M论文数: 0 引用数: 0 h-index: 0机构: Acad Hosp Schwabing, Inst Clin Chem Diagnost Mol Biol & Mitochondrial, D-80804 Munich, GermanyMüller-Höcker, J论文数: 0 引用数: 0 h-index: 0机构: Acad Hosp Schwabing, Inst Clin Chem Diagnost Mol Biol & Mitochondrial, D-80804 Munich, GermanyPongratz, D论文数: 0 引用数: 0 h-index: 0机构: Acad Hosp Schwabing, Inst Clin Chem Diagnost Mol Biol & Mitochondrial, D-80804 Munich, GermanyGerbitz, KD论文数: 0 引用数: 0 h-index: 0机构: Acad Hosp Schwabing, Inst Clin Chem Diagnost Mol Biol & Mitochondrial, D-80804 Munich, Germany
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- [29] GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in TurkeyCLINICAL ENDOCRINOLOGY, 2016, 85 (03) : 393 - 399Haliloglu, Belma论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Pediat Endocrinol, Sch Med, Fevzi Cakmak Mah Muhsin Yazicioglu Cad 10, TR-34899 Istanbul, Turkey Univ Exeter, Inst Biomed & Clin Sci, Sch Med, Exeter, Devon, England Marmara Univ, Dept Pediat Endocrinol, Sch Med, Fevzi Cakmak Mah Muhsin Yazicioglu Cad 10, TR-34899 Istanbul, TurkeyHysenaj, Gerald论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Inst Biomed & Clin Sci, Sch Med, Exeter, Devon, England Marmara Univ, Dept Pediat Endocrinol, Sch Med, Fevzi Cakmak Mah Muhsin Yazicioglu Cad 10, TR-34899 Istanbul, TurkeyAtay, Zeynep论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Pediat Endocrinol, Sch Med, Fevzi Cakmak Mah Muhsin Yazicioglu Cad 10, TR-34899 Istanbul, Turkey Marmara Univ, Dept Pediat Endocrinol, Sch Med, Fevzi Cakmak Mah Muhsin Yazicioglu Cad 10, TR-34899 Istanbul, TurkeyGuran, Tulay论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Pediat Endocrinol, Sch Med, Fevzi Cakmak Mah Muhsin Yazicioglu Cad 10, TR-34899 Istanbul, Turkey Marmara Univ, Dept Pediat Endocrinol, Sch Med, Fevzi Cakmak Mah Muhsin Yazicioglu Cad 10, TR-34899 Istanbul, TurkeyAbali, Saygin论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Pediat Endocrinol, Sch Med, Fevzi Cakmak Mah Muhsin Yazicioglu Cad 10, TR-34899 Istanbul, Turkey Marmara Univ, Dept Pediat Endocrinol, Sch Med, Fevzi Cakmak Mah Muhsin Yazicioglu Cad 10, TR-34899 Istanbul, TurkeyTuran, Serap论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Pediat Endocrinol, Sch Med, Fevzi Cakmak Mah Muhsin Yazicioglu Cad 10, TR-34899 Istanbul, Turkey Marmara Univ, Dept Pediat Endocrinol, Sch Med, Fevzi Cakmak Mah Muhsin Yazicioglu Cad 10, TR-34899 Istanbul, TurkeyBereket, Abdullah论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Pediat Endocrinol, Sch Med, Fevzi Cakmak Mah Muhsin Yazicioglu Cad 10, TR-34899 Istanbul, Turkey Marmara Univ, Dept Pediat Endocrinol, Sch Med, Fevzi Cakmak Mah Muhsin Yazicioglu Cad 10, TR-34899 Istanbul, TurkeyEllard, Sian论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Inst Biomed & Clin Sci, Sch Med, Exeter, Devon, England Marmara Univ, Dept Pediat Endocrinol, Sch Med, Fevzi Cakmak Mah Muhsin Yazicioglu Cad 10, TR-34899 Istanbul, Turkey
- [30] FAMILIAL CHILDHOOD-ONSET PROGRESSIVE CEREBELLAR SYNDROME ASSOCIATED WITH THE ATP1A3 MUTATIONNEUROLOGY-GENETICS, 2017, 3 (02)Jaffer, Fatima论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, Dept Neurosci, London, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, England UCL Inst Neurol, Dept Mol Neurosci, London, England Kings Coll Hosp London, Dept Neurosci, London, England论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Houlden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, England UCL Inst Neurol, Dept Mol Neurosci, London, England Kings Coll Hosp London, Dept Neurosci, London, EnglandHanna, Michael G.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, England UCL Inst Neurol, Dept Mol Neurosci, London, England Kings Coll Hosp London, Dept Neurosci, London, EnglandKingston, Helen论文数: 0 引用数: 0 h-index: 0机构: Cent Manchester Univ Hosp, Manchester, Lancs, England Kings Coll Hosp London, Dept Neurosci, London, EnglandSisodiya, Sanjay M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, NIHR UCLH Biomed Res Ctr, Dept Clin & Expt Epilepsy, Queen Sq, London, England Kings Coll Hosp London, Dept Neurosci, London, England