共 50 条
- [1] A rare case of centronuclear myopathy with DNM2 mutation: Genotype-phenotype correlation and review of articlesVIRCHOWS ARCHIV, 2016, 469 : S176 - S176Ghorbani, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Dept Pathol, Sacramento, CA 95817 USA Univ Calif Davis, Dept Pathol, Sacramento, CA 95817 USALechpanuner, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Dept Pathol, Sacramento, CA 95817 USA Univ Calif Davis, Dept Pathol, Sacramento, CA 95817 USA
- [2] Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathyNEUROMUSCULAR DISORDERS, 2017, 27 (09) : 836 - 842Wang, Haicui论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, Germany Univ Cologne, CMMC, Robert Koch Str 21, D-50931 Cologne, Germany Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, GermanyCastiglioni, Claudia论文数: 0 引用数: 0 h-index: 0机构: Clin Las Condes, Dept Pediat, Unit Neurol, Santiago, Chile Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, GermanyBayram, Ayse Kacar论文数: 0 引用数: 0 h-index: 0机构: Erciyes Univ, Sch Med, Div Pediat Neurol, Dept Pediat, Kayseri, Turkey Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, GermanyFattori, Fabiana论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Hosp IRCCS, Lab Mol Med, Unit Neuromuscular & Neurodegenerat Disorders, Rome, Italy Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, GermanyPekuz, Serdar论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, Germany Univ Cologne, CMMC, Robert Koch Str 21, D-50931 Cologne, Germany Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, GermanyAraneda, Diego论文数: 0 引用数: 0 h-index: 0机构: Clin Las Condes, Diagnost Imaging Serv, Santiago, Chile Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, GermanyPer, Huseyin论文数: 0 引用数: 0 h-index: 0机构: Erciyes Univ, Sch Med, Div Pediat Neurol, Dept Pediat, Kayseri, Turkey Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, GermanyErazo, Ricardo论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Luis Calvo Mackenna, Neurol Unit, Santiago, Chile Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, GermanyGumus, Hakan论文数: 0 引用数: 0 h-index: 0机构: Erciyes Univ, Sch Med, Div Pediat Neurol, Dept Pediat, Kayseri, Turkey Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, GermanyZorludemir, Suzan论文数: 0 引用数: 0 h-index: 0机构: Cukurova Univ, Sch Med, Dept Pathol, Adana, Turkey Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, Germany论文数: 引用数: h-index:机构:Ortega, Ximena论文数: 0 引用数: 0 h-index: 0机构: Clin Las Condes, Diagnost Imaging Serv, Santiago, Chile Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, GermanyAlfredo Bevilacqua, Jorge论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Chile, Dept Neurol & Neurocirugia, Santiago, Chile Univ Chile, Inst Ciencias Biomed E, Fac Med, Santiago, Chile Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, GermanyBertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Hosp IRCCS, Lab Mol Med, Unit Neuromuscular & Neurodegenerat Disorders, Rome, Italy Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, GermanyCirak, Sebahattin论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, Germany Univ Cologne, CMMC, Robert Koch Str 21, D-50931 Cologne, Germany Univ Hosp Cologne, Dept Pediat, Kerpener Str 62, D-50931 Cologne, Germany
- [3] Centronuclear myopathy: clinical and morphological phenotype/genotype correlationsNEUROMUSCULAR DISORDERS, 2006, 16 (9-10) : 710 - 710Bevilacqua, J. A.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, INSERM, U582, Inst Myol, Paris, FranceBitoun, M.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, INSERM, U582, Inst Myol, Paris, FranceOldfors, A.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, INSERM, U582, Inst Myol, Paris, FranceLubieniecki, F.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, INSERM, U582, Inst Myol, Paris, FranceMonges, S.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, INSERM, U582, Inst Myol, Paris, FranceTaratuto, A. L.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, INSERM, U582, Inst Myol, Paris, FranceUrtizberea, A.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, INSERM, U582, Inst Myol, Paris, FranceCartier, L.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, INSERM, U582, Inst Myol, Paris, FranceUro-Coste, E.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, INSERM, U582, Inst Myol, Paris, FranceCances, C.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, INSERM, U582, Inst Myol, Paris, FranceFardeau, M.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, INSERM, U582, Inst Myol, Paris, FranceGuicheney, P.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, INSERM, U582, Inst Myol, Paris, FranceRomero, N. B.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, INSERM, U582, Inst Myol, Paris, France
- [4] Genotype-phenotype correlation in Bethlem myopathyNEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 720 - 721Pepe, G论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyLucioli, S论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyVanegas, OC论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyMinosse, C论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyGiusti, B论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyUrtizberea, JA论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyMuntoni, F论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyBushby, K论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, Italyde Visser, M论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyBönnemann, C论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalySabatelli, P论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyBertini, E论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyMerlini, L论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyChu, ML论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, Italy
- [5] Genotype-phenotype correlations in nemaline myopathyNEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 757 - 757Wallgren-Petterson, C论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki, FinlandPelin, K论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki, FinlandNowak, K论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki, FinlandMuntoni, F论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki, FinlandNorth, K论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki, FinlandBeggs, A论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki, FinlandLaing, N论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki, Finland
- [6] Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype-Phenotype Correlation in Autosomal Dominant Centronuclear MyopathyHUMAN MUTATION, 2012, 33 (06) : 949 - 959Bohm, Johann论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceBiancalana, Valerie论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, France Nouvel Hop Civil, Lab Diagnost Genet, Fac Med, Strasbourg, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceDeChene, Elizabeth T.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Childrens Hosp Boston, Manton Ctr Orphan Dis Res,Div Genet, Boston, MA USA Harvard Univ, Sch Med, Childrens Hosp Boston, Manton Ctr Orphan Dis Res,Program Genom, Boston, MA USA Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceBitoun, Marc论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, INSERM, U974, Inst Myol,Grp Hosp Pitie Salpetriere,UM76,CNRS,UM, Paris, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FrancePierson, Christopher R.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Childrens Hosp Boston, Manton Ctr Orphan Dis Res,Div Genet, Boston, MA USA Harvard Univ, Sch Med, Childrens Hosp Boston, Manton Ctr Orphan Dis Res,Program Genom, Boston, MA USA Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceSchaefer, Elise论文数: 0 引用数: 0 h-index: 0机构: Nouvel Hop Civil, Lab Diagnost Genet, Fac Med, Strasbourg, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceKarasoy, Hatice论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Sch Med, Dept Neurol, Izmir, Turkey Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceDempsey, Melissa A.论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Chicago, IL 60637 USA Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, France论文数: 引用数: h-index:机构:Dondaine, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Nouvel Hop Civil, Lab Diagnost Genet, Fac Med, Strasbourg, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceKretz, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceHaumesser, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FrancePoirson, Claire论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceToussaint, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceGreenleaf, Rebecca S.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Childrens Hosp Boston, Manton Ctr Orphan Dis Res,Div Genet, Boston, MA USA Harvard Univ, Sch Med, Childrens Hosp Boston, Manton Ctr Orphan Dis Res,Program Genom, Boston, MA USA Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceBarger, Melissa A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Childrens Hosp Boston, Manton Ctr Orphan Dis Res,Div Genet, Boston, MA USA Harvard Univ, Sch Med, Childrens Hosp Boston, Manton Ctr Orphan Dis Res,Program Genom, Boston, MA USA Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceMahoney, Lane J.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Childrens Hosp Boston, Manton Ctr Orphan Dis Res,Div Genet, Boston, MA USA Harvard Univ, Sch Med, Childrens Hosp Boston, Manton Ctr Orphan Dis Res,Program Genom, Boston, MA USA Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceKang, Peter B.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Childrens Hosp Boston, Manton Ctr Orphan Dis Res,Div Genet, Boston, MA USA Harvard Univ, Sch Med, Childrens Hosp Boston, Manton Ctr Orphan Dis Res,Program Genom, Boston, MA USA Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceZanoteli, Edmar论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Sch Med, Dept Neurol, Sao Paulo, Brazil Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceVissing, John论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Rigshosp, Dept Neurol, DK-2100 Copenhagen, Denmark Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceWitting, Nanna论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Rigshosp, Dept Neurol, DK-2100 Copenhagen, Denmark Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceEchaniz-Laguna, Andoni论文数: 0 引用数: 0 h-index: 0机构: Hop Civil, Dept Neurol, Strasbourg, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceWallgren-Pettersson, Carina论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Inst Genet, Helsinki, Finland Univ Helsinki, Haartman Inst, Dept Med Genet, FIN-00014 Helsinki, Finland Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceDowling, James论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceMerlini, Luciano论文数: 0 引用数: 0 h-index: 0机构: Inst Ortoped Rizzoli, Lab Musculoskeletal Cell Biol, Bologna, Italy Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceOldfors, Anders论文数: 0 引用数: 0 h-index: 0机构: Sahlgrens Univ Hosp, Inst Biomed, Gothenburg, Sweden Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceOusager, Lilian Bomme论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense, Denmark Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceMelki, Judith论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 11, Hop Kremlin Bicetre, INSERM, UMR788, Le Kremlin Bicetre, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceKrause, Amanda论文数: 0 引用数: 0 h-index: 0机构: Univ Witwatersrand, Natl Hlth Lab Serv, Div Human Genet, Johannesburg, South Africa Univ Witwatersrand, Sch Pathol, Johannesburg, South Africa Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceJern, Christina论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Inst Neurosci & Physiol, Gothenburg, Sweden Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceOliveira, Acary S. B.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Dept Neurol, Sao Paulo, Brazil Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FrancePetit, Florence论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Reg Univ, Serv Genet, Lille, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceJacquette, Aurelia论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, Dept Genet, Paris, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceChaussenot, Annabelle论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nice, Serv Genet Med, Nice, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceMowat, David论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Dept Med Genet, Randwick, NSW, Australia Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceLeheup, Bruno论文数: 0 引用数: 0 h-index: 0机构: CHU Nancy, Serv Med Infantile & Genet Clin 3, Nancy, France Univ Lorraine, Fac Med, Vandoeuvre Les Nancy, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceCristofano, Michele论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Pisana, Dept Neurol, Pisa, Italy Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FrancePoza Aldea, Juan Jose论文数: 0 引用数: 0 h-index: 0机构: Hosp Donostia, Serv Neurol, San Sebastian, Spain Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceMichel, Fabrice论文数: 0 引用数: 0 h-index: 0机构: CHU, Dept Neuromuscular Invest & Pathol, Besancon, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceFurby, Alain论文数: 0 引用数: 0 h-index: 0机构: Hop Nord St Etienne, CHU, Serv Neurol, St Etienne, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceBarcena Llona, Jose E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cruces, Baracaldo, Spain Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceVan Coster, Rudy论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ghent, Belgium Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceBertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Res Hosp, Dept Neurosci, Rome, Italy Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceUrtizberea, Jon Andoni论文数: 0 引用数: 0 h-index: 0机构: Hop Marin, Hendaye, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceDrouin-Garraud, Valerie论文数: 0 引用数: 0 h-index: 0机构: Hop Rouen, Serv Genet, Rouen, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceBeroud, Christophe论文数: 0 引用数: 0 h-index: 0机构: INSERM, U827, Lab Genet Mol, Montpellier, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FrancePrudhon, Bernard论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, INSERM, U974, Inst Myol,Grp Hosp Pitie Salpetriere,UM76,CNRS,UM, Paris, France Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceBedford, Melanie论文数: 0 引用数: 0 h-index: 0机构: N York Gen Hosp, Genet Programme, Toronto, ON, Canada Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceMathews, Katherine论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Iowa City, IA USA Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, FranceErby, Lori A. H.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Bloomberg Sch Publ Hlth, Dept Hlth Behav & Soc, Baltimore, MD USA Johns Hopkins Sch Med, Dept Neurol & Neurosurg, Baltimore, MD USA Univ Strasbourg, Coll France, Inst Genet & Biol Mol & Cellulaire, INSERM,U964,CNRS,UMR7104,Dept Translat Med & Neur, 1 Rue Laurent Fries, F-67404 Illkirch Graffenstaden, France
- [7] GENERALIZING GENOTYPE-PHENOTYPE RELATIONSHIPSLAB ANIMAL, 2016, 45 (11) : 411 - 411Graham, Dustin M.论文数: 0 引用数: 0 h-index: 0
- [8] Generalizing genotype-phenotype relationshipsLab Animal, 2016, 45 : 411 - 411Dustin M. Graham论文数: 0 引用数: 0 h-index: 0
- [9] Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature reviewEUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (10) : 1034 - 1042Nielsen, Maartje论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Lab Diagnost Genome Anal, NL-2300 RC Leiden, NetherlandsBik, Elsa论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Lab Diagnost Genome Anal, NL-2300 RC Leiden, NetherlandsHes, Frederik J.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Lab Diagnost Genome Anal, NL-2300 RC Leiden, NetherlandsBreuning, Martijn H.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Lab Diagnost Genome Anal, NL-2300 RC Leiden, NetherlandsVasen, Hans F. A.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Lab Diagnost Genome Anal, NL-2300 RC Leiden, NetherlandsBakker, Egbert论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Lab Diagnost Genome Anal, NL-2300 RC Leiden, NetherlandsTops, Carli M. J.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Lab Diagnost Genome Anal, NL-2300 RC Leiden, NetherlandsWeiss, Marjan M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Lab Diagnost Genome Anal, NL-2300 RC Leiden, Netherlands
- [10] Genotype-phenotype associations in Fanconi anemia: A literature reviewBLOOD REVIEWS, 2019, 37Fiesco-Roa, Moises O.论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr, Rockville, MD 20850 USA Inst Nacl Pediat, Lab Citogenet, Mexico City, DF, Mexico Univ Nacl Autonoma Mexico, Programa Maestria & Doctorado Ciencias Med, Mexico City 14510, DF, Mexico NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr, Rockville, MD 20850 USAGiri, Neelam论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr, Rockville, MD 20850 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr, Rockville, MD 20850 USAMcReynolds, Lisa J.论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr, Rockville, MD 20850 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr, Rockville, MD 20850 USABest, Ana F.论文数: 0 引用数: 0 h-index: 0机构: NCI, Biostat Branch, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr, Rockville, MD 20850 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr, Rockville, MD 20850 USAAlter, Blanche P.论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr, Rockville, MD 20850 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, 9609 Med Ctr Dr, Rockville, MD 20850 USA