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机译:MTM1突变的受影响的雌性载体显示出广泛的临床和病理涉及:划定诊断线索
Nouvel Hop Civil CHRU Fac Med Lab Diagnost Genet 1 Pl Hop F-67091 Strasbourg France;
Nouvel Hop Civil CHRU Fac Med Lab Diagnost Genet 1 Pl Hop F-67091 Strasbourg France;
Nouvel Hop Civil CHRU Fac Med Lab Diagnost Genet 1 Pl Hop F-67091 Strasbourg France;
Normandie Univ Rouen Univ Hosp INSERM UNIROUE Dept Pathol U1245 F-76000 Rouen France;
UPMC Univ Paris 06 Sorbonne Univ GH Pitie Salpetriere Ctr Res Myology INSERM CNRS FRE3617;
GHU Pitie Salpetriere AP HP Inst Myol Ctr Reference Pathol Neuromusculaire Paris Est Paris;
FMUSP Dept Neurol Sao Paulo Brazil;
CHU Unite Genet Clin Serv Genet Med Nantes France;
Radboud Univ Nijmegen Med Ctr Dept Neurol Nijmegen Netherlands;
Univ Hosp Dept Clin Genet Turku Finland;
Greenwood Genet Ctr Greenwood SC 29646 USA;
Hop Croix Rousse Serv Genet Neurogenet &
Med Predict Lyon France;
Heartlands Hosp Birmingham W Midlands England;
CHU Grenoble Pole Psychiat &
Neurol Grenoble France;
Tel Aviv Univ Sourasky Med Ctr Tel Aviv Israel;
Inst Genet &
Biol Mol &
Cellulaire Illkirch Graffenstaden France;
Inst Genet &
Biol Mol &
Cellulaire Illkirch Graffenstaden France;
CHU Strasbourg Hop Hautepierre Serv Genet Med Strasbourg France;
Grp Hosp Univ Pitie Salpetriere Ctr Reference Pathol Neuromusculaire Paris Est Paris France;
Aix Marseille Univ Univ Hosp La Timone AP HM Natl Ctr Expertise Neuromuscular Disorders;
Hop Jeanne Flandre CHRU Lille Serv Genet Clin Lille France;
Hop Sud CHU Rennes Serv Genet Clin Rennes France;
CHRU Brest Ctr Competence Breton Malad Neuromusculaires Serv Anat &
Cytol Patholog Brest France;
CHU Nantes Ctr Reference Malad Neuromusculaires Nantes Anger Nantes France;
Radboud Univ Nijmegen Med Ctr Dept Pathol Nijmegen Netherlands;
Univ Claude Bernard Lyon1 Hosp Civils Lyon Inst NeuroMyogene CNRS INSERM UMR 5310 U1217 Lyon;
Hop Hautepierre CHU Strasbourg Neurol Strasbourg France;
Nouvel Hop Civil CHRU Fac Med Lab Diagnost Genet 1 Pl Hop F-67091 Strasbourg France;
Inst Genet &
Biol Mol &
Cellulaire Illkirch Graffenstaden France;
Nouvel Hop Civil CHRU Fac Med Lab Diagnost Genet 1 Pl Hop F-67091 Strasbourg France;
Nouvel Hop Civil CHRU Fac Med Lab Diagnost Genet 1 Pl Hop F-67091 Strasbourg France;
Hop Hautepierre CHU Strasbourg Serv Cytogenet Constitutionnelle &
Prenatale Strasbourg France;
Aix Marseille Univ Timone Hosp GMGF APHM Dept Med Genet Marseille France;
Radboud Univ Nijmegen Med Ctr Dept Human Genet Nijmegen Netherlands;
Grp Hosp Univ Pitie Salpetriere Inst Myol Lab Resonnance Magnet Paris France;
Hop Raymond Poincare Serv Radiol Garches France;
CSTB Complex Syst &
Translat Bioinformat Fac Med ICube UMR7357 Strasbourg France;
CEA Inst Biol Francois Jacobs CNRGH Evry France;
UPMC Univ Paris 06 Sorbonne Univ GH Pitie Salpetriere Ctr Res Myology INSERM CNRS FRE3617;
FMUSP Dept Neurol Sao Paulo Brazil;
Inst Genet &
Biol Mol &
Cellulaire Illkirch Graffenstaden France;
MTM1; X-linked myotubular myopathy; Centronuclear myopathy; Congenital myopathy; X inactivation;
机译:MTM1突变的受影响的雌性载体显示出广泛的临床和病理涉及:划定诊断线索
机译:皮特-霍普金斯综合征的新型综合诊断策略:临床评分和TCF4突变谱的进一步描述。
机译:在MTM1突变引起的成年核心病变中成人症状女性载体的非压实心肌病和早期呼吸衰竭
机译:微旋光法在人类组织病理变化的临床前诊断中
机译:慢性骨髓增生性肿瘤钙网蛋白基因突变的临床和病理意义
机译:扩展MTM1突变谱:新颖的变体包括首次多外显子复制和基因座特异性数据库的开发
机译:扩展MTM1突变谱:新颖的变体,包括首次多外显子复制和基因座特异性数据库的开发