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- [41] Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutationsHuman Genetics, 2014, 133 : 939 - 949Lina Basel-Vanagaite论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterRüstem Yilmaz论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterSha Tang论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterMiriam S. Reuter论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterNils Rahner论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterDorothy K. Grange论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterMegan Mortenson论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterPatrick Koty论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterHeather Feenstra论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterKelly D. Farwell Gonzalez论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterHeinrich Sticht论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterNathalie Boddaert论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterJulie Désir论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterKwame Anyane-Yeboa论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterChristiane Zweier论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterAndré Reis论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterChristian Kubisch论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterTamison Jewett论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterWenqi Zeng论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research CenterGuntram Borck论文数: 0 引用数: 0 h-index: 0机构: Rabin Medical Center,Raphael Recanati Genetic Institute and Felsenstein Medical Research Center
- [42] Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutationsHUMAN GENETICS, 2014, 133 (07) : 939 - 949Basel-Vanagaite, Lina论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel Rabin Med Ctr, Felsenstein Med Res Ctr, IL-49100 Petah Tiqwa, Israel Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel Schneider Childrens Med Ctr Israel, IL-49202 Petah Tiqwa, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelYilmaz, Rustem论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Inst Human Genet, D-89081 Ulm, Germany Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelTang, Sha论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelReuter, Miriam S.论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelRahner, Nils论文数: 0 引用数: 0 h-index: 0机构: Univ Dusseldorf, Inst Human Genet, Fac Med, D-40225 Dusseldorf, Germany Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelGrange, Dorothy K.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med,St Louis Childrens Hosp, St Louis, MO 63110 USA Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelMortenson, Megan论文数: 0 引用数: 0 h-index: 0机构: Wake Forest Sch Med, Med Genet Sect, Dept Pediat, Winston Salem, NC 27157 USA Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelKoty, Patrick论文数: 0 引用数: 0 h-index: 0机构: Wake Forest Sch Med, Med Genet Sect, Dept Pediat, Winston Salem, NC 27157 USA Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelFeenstra, Heather论文数: 0 引用数: 0 h-index: 0机构: Roosevelt Hosp, New York, NY 10019 USA Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelGonzalez, Kelly D. Farwell论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelSticht, Heinrich论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelBoddaert, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelDesir, Julie论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelAnyane-Yeboa, Kwame论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelZweier, Christiane论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelReis, Andre论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelKubisch, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Inst Human Genet, D-89081 Ulm, Germany Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelJewett, Tamison论文数: 0 引用数: 0 h-index: 0机构: Wake Forest Sch Med, Med Genet Sect, Dept Pediat, Winston Salem, NC 27157 USA Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelZeng, Wenqi论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelBorck, Guntram论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Inst Human Genet, D-89081 Ulm, Germany Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel
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- [44] Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegiaGenome Biology, 12Atsushi Takata论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Molecular Dynamics of Mental Disorders,Department of NeuropsychiatryMaiko Kato论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Molecular Dynamics of Mental Disorders,Department of NeuropsychiatryMasayuki Nakamura论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Molecular Dynamics of Mental Disorders,Department of NeuropsychiatryTakeo Yoshikawa论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Molecular Dynamics of Mental Disorders,Department of NeuropsychiatryShigenobu Kanba论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Molecular Dynamics of Mental Disorders,Department of NeuropsychiatryAkira Sano论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Molecular Dynamics of Mental Disorders,Department of NeuropsychiatryTadafumi Kato论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Molecular Dynamics of Mental Disorders,Department of Neuropsychiatry
- [45] Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegiaGENOME BIOLOGY, 2011, 12 (09):Takata, Atsushi论文数: 0 引用数: 0 h-index: 0机构: RIKEN Brain Sci Inst, Lab Mol Dynam Mental Disorders, Wako, Saitama 3510198, Japan Kyushu Univ, Grad Sch Med Sci, Dept Neuropsychiat, Higashi Ku, Fukuoka 8128582, Japan RIKEN Brain Sci Inst, Lab Mol Psychiat, Wako, Saitama 3510198, Japan RIKEN Brain Sci Inst, Lab Mol Dynam Mental Disorders, Wako, Saitama 3510198, JapanKato, Maiko论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Dept Psychiat, Grad Sch Med & Dent Sci, Kagoshima 8908520, Japan RIKEN Brain Sci Inst, Lab Mol Dynam Mental Disorders, Wako, Saitama 3510198, Japan论文数: 引用数: h-index:机构:Yoshikawa, Takeo论文数: 0 引用数: 0 h-index: 0机构: RIKEN Brain Sci Inst, Lab Mol Psychiat, Wako, Saitama 3510198, Japan RIKEN Brain Sci Inst, Lab Mol Dynam Mental Disorders, Wako, Saitama 3510198, JapanKanba, Shigenobu论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Grad Sch Med Sci, Dept Neuropsychiat, Higashi Ku, Fukuoka 8128582, Japan RIKEN Brain Sci Inst, Lab Mol Dynam Mental Disorders, Wako, Saitama 3510198, JapanSano, Akira论文数: 0 引用数: 0 h-index: 0机构: Kagoshima Univ, Dept Psychiat, Grad Sch Med & Dent Sci, Kagoshima 8908520, Japan RIKEN Brain Sci Inst, Lab Mol Dynam Mental Disorders, Wako, Saitama 3510198, JapanKato, Tadafumi论文数: 0 引用数: 0 h-index: 0机构: RIKEN Brain Sci Inst, Lab Mol Dynam Mental Disorders, Wako, Saitama 3510198, Japan RIKEN Brain Sci Inst, Lab Mol Dynam Mental Disorders, Wako, Saitama 3510198, Japan
- [46] EXPANDING THE CLINICAL, GENETIC, AND PATHOGENIC SPECTRUM OF NEONATAL EPILEPSIES ASSOCIATED WITH KCNQ2 MUTATIONSEPILEPSIA, 2014, 55 : 214 - 214Aharoni, S.论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Epilepsy Ctr, Petah Tiqwa, Israel Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Epilepsy Ctr, Petah Tiqwa, IsraelGoldberg-Stern, H.论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Epilepsy Ctr, Petah Tiqwa, Israel Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Epilepsy Ctr, Petah Tiqwa, IsraelBerkovic, S. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, PSY Res Ctr, Dept Med, Heidelberg, Qld, Australia Schneider Childrens Med Ctr Israel, Epilepsy Ctr, Petah Tiqwa, Israel
- [47] The expanding clinical and pathologic spectrum of mitochondrial DNA polymerase gamma mutationsJOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2007, 66 (05): : 437 - 437Farrell, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Beaumont Hosp, Dublin 9, Ireland Beaumont Hosp, Dublin 9, IrelandHowley, Rachel论文数: 0 引用数: 0 h-index: 0机构: Beaumont Hosp, Dublin 9, Ireland Beaumont Hosp, Dublin 9, IrelandAlderazi, Yazan论文数: 0 引用数: 0 h-index: 0机构: Beaumont Hosp, Dublin 9, Ireland Beaumont Hosp, Dublin 9, IrelandBrett, Francesca论文数: 0 引用数: 0 h-index: 0机构: Beaumont Hosp, Dublin 9, Ireland Beaumont Hosp, Dublin 9, IrelandMoroney, Joan论文数: 0 引用数: 0 h-index: 0机构: Beaumont Hosp, Dublin 9, Ireland Beaumont Hosp, Dublin 9, IrelandRaymond, Murphy论文数: 0 引用数: 0 h-index: 0机构: Beaumont Hosp, Dublin 9, Ireland Beaumont Hosp, Dublin 9, Ireland
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- [50] EXPANDING THE CLINICAL SPECTRUM ASSOCIATED WITH SLC6A1 MUTATIONSEPILEPSIA, 2016, 57 : 118 - 118Moller, R. S.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dianalund, Denmark Univ Southern Denmark, Inst Reg Hlth Serv, Odense, Denmark Danish Epilepsy Ctr, Dianalund, DenmarkHelbig, I论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Schleswig Holstein, Dept Neuropediat, Kiel, Germany Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA Danish Epilepsy Ctr, Dianalund, DenmarkMehrjouy, M. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Dept Cellular & Mol Med, Copenhagen, Denmark Danish Epilepsy Ctr, Dianalund, DenmarkLesca, G.论文数: 0 引用数: 0 h-index: 0机构: Lyon Univ Hosp, Dept Genet, Lyon, France Claude Bernard Lyon I Univ, Lyon, France Lyon Neurosci Res Ctr, CNRS, UMR 5292, INSERM,U1028, Lyon, France Danish Epilepsy Ctr, Dianalund, DenmarkMignot, C.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, Dept Genet, Ctr Reference Deficiences Intellectuelles Causes, Paris, France Danish Epilepsy Ctr, Dianalund, Denmark论文数: 引用数: h-index:机构:Johannesen, K. M.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dianalund, Denmark Univ Southern Denmark, Inst Reg Hlth Serv, Odense, Denmark Danish Epilepsy Ctr, Dianalund, DenmarkMyers, C. T.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Danish Epilepsy Ctr, Dianalund, DenmarkPiton, A.论文数: 0 引用数: 0 h-index: 0机构: Strasbourg Univ, Dept Translat Med & Neurogenet, IGBMC, CNRS,UMR 7104,INSERM,U964, Strasbourg, France Danish Epilepsy Ctr, Dianalund, DenmarkPendziwiat, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Schleswig Holstein, Dept Neuropediat, Kiel, Germany Danish Epilepsy Ctr, Dianalund, DenmarkHelbig, K.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Div Clin Genom, Aliso Viejo, CA USA Danish Epilepsy Ctr, Dianalund, DenmarkKeren, B.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, Dept Genet, Ctr Reference Deficiences Intellectuelles Causes, Paris, France Danish Epilepsy Ctr, Dianalund, DenmarkBache, I论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Dept Cellular & Mol Med, Copenhagen, Denmark Danish Epilepsy Ctr, Dianalund, DenmarkOusager, L. B.论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Clin Genet, Odense, Denmark Danish Epilepsy Ctr, Dianalund, DenmarkWeber, Y. G.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany Danish Epilepsy Ctr, Dianalund, DenmarkLehesjoki, A. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Folkhalsan Inst Genet, Finland Res Programs Unit, Mol Neurol & Neurosci Ctr, Helsinki, Finland Danish Epilepsy Ctr, Dianalund, DenmarkRubboli, G.论文数: 0 引用数: 0 h-index: 0机构: Filadelfia Univ Copenhagen, Danish Epilepsy Ctr, Copenhagen, Denmark Danish Epilepsy Ctr, Dianalund, Denmark论文数: 引用数: h-index:机构:Mefford, H. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Danish Epilepsy Ctr, Dianalund, Denmark