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- [1] SEQUENCING OF THE HYPOXIA PATHWAY GENES IN PATIENTS WITH CONGENITAL ERYTHROCYTOSES BY NEXT GENERATION SEQUENCING[J]. HAEMATOLOGICA, 2017, 102 : 286 - 287Girodon, F.论文数: 0 引用数: 0 h-index: 0机构: Plateau Tech Biol, Lab Hematol, Dijon, France INSERM, U1231, Fac Med, Dijon, France Plateau Tech Biol, Lab Hematol, Dijon, FrancePacault, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Nantes, INSERM, Nantes, France Plateau Tech Biol, Lab Hematol, Dijon, FranceAiraud, F.论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Lab Genet Mol, Nantes, France Plateau Tech Biol, Lab Hematol, Dijon, FranceGarrec, C.论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Lab Genet Mol, Nantes, France Plateau Tech Biol, Lab Hematol, Dijon, FranceCorbineau, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Nantes, INSERM, Ctr Rech Cancerol & Immunol Nantes Angers, Nantes, France Plateau Tech Biol, Lab Hematol, Dijon, FranceCasadevall, N.论文数: 0 引用数: 0 h-index: 0机构: IGR, INSERM, U1170, Villejuif, France Plateau Tech Biol, Lab Hematol, Dijon, FranceRose, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Catholique Lille, Hop St Vincent de Paul, Serv Oncohematol, Lille, France Plateau Tech Biol, Lab Hematol, Dijon, Francede Renzis, B.论文数: 0 引用数: 0 h-index: 0机构: CHU Clermont Ferrand, Serv Hematol Clin Adulte & Therapies Cellulaires, Clermont Ferrand, France Plateau Tech Biol, Lab Hematol, Dijon, FrancePeroni, E.论文数: 0 引用数: 0 h-index: 0机构: Dept Med DIMED, Clin Med 1, Padua, Italy Plateau Tech Biol, Lab Hematol, Dijon, FranceRandi, M. L.论文数: 0 引用数: 0 h-index: 0机构: Dept Med DIMED, Clin Med 1, Padua, Italy Plateau Tech Biol, Lab Hematol, Dijon, FranceDumont, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Nantes, INSERM, Ctr Rech Cancerol & Immunol Nantes Angers, Nantes, France Plateau Tech Biol, Lab Hematol, Dijon, FranceRicordeau, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Nantes, INSERM, Ctr Rech Cancerol & Immunol Nantes Angers, Nantes, France Plateau Tech Biol, Lab Hematol, Dijon, FranceBezieau, S.论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Lab Genet Mol, Nantes, France Plateau Tech Biol, Lab Hematol, Dijon, FranceGardie, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Nantes, INSERM, Ctr Rech Cancerol & Immunol Nantes Angers, Nantes, France Plateau Tech Biol, Lab Hematol, Dijon, France
- [2] Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome[J]. GENE, 2013, 526 (02) : 474 - 477Beicht, Sonja论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet & Lab Med Dr Klein Dr Rost & Coll, D-82152 Martinsried, Germany Ctr Human Genet & Lab Med Dr Klein Dr Rost & Coll, D-82152 Martinsried, GermanyStrobl-Wildemann, Gertrud论文数: 0 引用数: 0 h-index: 0机构: Humangenet Ulm MVZ, Ulm, Germany Ctr Human Genet & Lab Med Dr Klein Dr Rost & Coll, D-82152 Martinsried, GermanyRath, Sabine论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet & Lab Med Dr Klein Dr Rost & Coll, D-82152 Martinsried, Germany Ctr Human Genet & Lab Med Dr Klein Dr Rost & Coll, D-82152 Martinsried, GermanyWachter, Oliver论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet & Lab Med Dr Klein Dr Rost & Coll, D-82152 Martinsried, Germany Ctr Human Genet & Lab Med Dr Klein Dr Rost & Coll, D-82152 Martinsried, GermanyAlberer, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Univ Childrens Hosp, Munich, Germany Ctr Human Genet & Lab Med Dr Klein Dr Rost & Coll, D-82152 Martinsried, GermanyKaminsky, Elke论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet & Lab Med Dr Klein Dr Rost & Coll, D-82152 Martinsried, GermanyWeber, Lutz T.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Univ Childrens Hosp, Munich, Germany Ctr Human Genet & Lab Med Dr Klein Dr Rost & Coll, D-82152 Martinsried, GermanyHinrichsen, Tanja论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet & Lab Med Dr Klein Dr Rost & Coll, D-82152 Martinsried, Germany Ctr Human Genet & Lab Med Dr Klein Dr Rost & Coll, D-82152 Martinsried, GermanyKlein, Hanns-Georg论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet & Lab Med Dr Klein Dr Rost & Coll, D-82152 Martinsried, Germany Ctr Human Genet & Lab Med Dr Klein Dr Rost & Coll, D-82152 Martinsried, GermanyHoefele, Julia论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet & Lab Med Dr Klein Dr Rost & Coll, D-82152 Martinsried, Germany Ctr Human Genet & Lab Med Dr Klein Dr Rost & Coll, D-82152 Martinsried, Germany
- [3] Next generation sequencing is a promising tool for the diagnosis of hereditary neuropathies[J]. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2018, 23 (04) : 401 - 401Good, Jean-Marc论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Lausanne, Switzerland Univ Lausanne, Lausanne, SwitzerlandTran, Christel论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Lausanne, Switzerland Univ Lausanne, Lausanne, SwitzerlandUnger, Sheila论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Lausanne, Switzerland Univ Lausanne, Lausanne, SwitzerlandFodstad, Heidi论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Lausanne, Switzerland Univ Lausanne, Lausanne, SwitzerlandMittaz-Crettol, Laureane论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Lausanne, Switzerland Univ Lausanne, Lausanne, SwitzerlandRoyer-Bertrand, Beryl论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Lausanne, Switzerland Univ Lausanne, Lausanne, SwitzerlandSuperti-Furga, Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Lausanne, Switzerland Univ Lausanne, Lausanne, Switzerland论文数: 引用数: h-index:机构:
- [4] Next generation sequencing technologies in the genetic diagnosis of Congenital Myasthenic Syndrome[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 442 - 442Toepf, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandAzuma, Y.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandGorokhova, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Aix Marseille, INSERM, Marseille, France Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandO'Connor, E.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandPorter, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandLorenzoni, P.论文数: 0 引用数: 0 h-index: 0机构: UFPR, Neurol Hosp Clin, Curitiba, Parana, Brazil Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandMcMacken, G.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandAlrohaif, H.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandHarris, E.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandMueller, J.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandChaouch, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandCox, D.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandEvangelista, T.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandMacArthur, D.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandMagnusson, O.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet, Reykjavik, Iceland Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandNicole, S.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, INSERM, Paris, France Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandRoos, A.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandSenderek, J.论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Friedrich Baur Inst, Munich, Germany Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandBartoli, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Aix Marseille, INSERM, Marseille, France Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandAbicht, A.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Ctr, Munich, Germany Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandLochmueller, H.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
- [5] THE "NEXT GENERATION SEQUENCING" UTILITY IN THE OPTIMIZATION OF THE DIAGNOSIS OF THE CONGENITAL HEMOLITICAS ANEMIA[J]. HAEMATOLOGICA, 2015, 100 : 1 - 2Del Orbe Barreto, R.论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Sanitaria BioCruces, Barcelona, Spain Inst Invest Sanitaria BioCruces, Barcelona, SpainArrizabalaga, B.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cruces, Bizkaia, Spain Inst Invest Sanitaria BioCruces, Barcelona, SpainDe la Hoz, A. B.论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Sanitaria BioCruces, Barcelona, Spain Inst Invest Sanitaria BioCruces, Barcelona, SpainTejada, I论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cruces, Bizkaia, Spain Inst Invest Sanitaria BioCruces, Barcelona, SpainAraguees, P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cruces, Bizkaia, Spain Inst Invest Sanitaria BioCruces, Barcelona, SpainSilva, C.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra, Coimbra, Portugal Inst Invest Sanitaria BioCruces, Barcelona, SpainAlmeida, H.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra, Coimbra, Portugal Inst Invest Sanitaria BioCruces, Barcelona, SpainFidalgo, T.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra, Coimbra, Portugal Inst Invest Sanitaria BioCruces, Barcelona, SpainBento, C.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra, Coimbra, Portugal Inst Invest Sanitaria BioCruces, Barcelona, SpainManco, L.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra, Coimbra, Portugal Inst Invest Sanitaria BioCruces, Barcelona, SpainGarcia Ruiz, J. C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Cruces, Bizkaia, Spain Inst Invest Sanitaria BioCruces, Barcelona, SpainRibeiro, L.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra, Coimbra, Portugal Inst Invest Sanitaria BioCruces, Barcelona, Spain
- [6] Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Congenital Anemias[J]. MOLECULAR DIAGNOSIS & THERAPY, 2020, 24 (04) : 397 - 407Steinberg-Shemer, Orna论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Dept Hematol Oncol, Petah Tiqwa, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Felsenstein Med Res Ctr, Pediat Hematol Lab, Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Dept Hematol Oncol, Petah Tiqwa, IsraelTamary, Hannah论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Dept Hematol Oncol, Petah Tiqwa, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Felsenstein Med Res Ctr, Pediat Hematol Lab, Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Dept Hematol Oncol, Petah Tiqwa, Israel
- [7] Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias[J]. EUROPEAN JOURNAL OF HAEMATOLOGY, 2018, 101 (03) : 297 - 304Averbuch, Noa Shefer论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Petah Tiqwa, Israel Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelSteinberg-Shemer, Orna论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Petah Tiqwa, Israel Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelDgany, Orly论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Sch Med, Felsenstein Med Res Ctr, Pediat Hematol Lab, Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelKrasnov, Tanya论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Sch Med, Felsenstein Med Res Ctr, Pediat Hematol Lab, Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelNoy-Lotan, Sharon论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Sch Med, Felsenstein Med Res Ctr, Pediat Hematol Lab, Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelYacobovich, Joanne论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Petah Tiqwa, Israel Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelKuperman, Amir A.论文数: 0 引用数: 0 h-index: 0机构: Galilee Med Ctr, Blood Coagulat Serv & Pediat Hematol Clin, Nahariyya, Israel Bar Ilan Univ, Azrieli Fac Med, Safed, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelKattamis, Antonis论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Dept Pediat 1, Athens, Greece Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelBen Barak, Ayelet论文数: 0 引用数: 0 h-index: 0机构: Rambam Med Ctr, Pediat Hematol Oncol Dept, Haifa, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelRoth-Jelinek, Batia论文数: 0 引用数: 0 h-index: 0机构: Hadassah Med Ctr, Dept Hematol, Jerusalem, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelChubar, Evgeni论文数: 0 引用数: 0 h-index: 0机构: HaEmek Med Ctr, Blood Bank, Afula, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelShabad, Evelyn论文数: 0 引用数: 0 h-index: 0机构: Carmel Hosp, Blood Bank, Haifa, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelDufort, Gustavo论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Pereira Rossell, Pediat Hematooncol Dept, Montevideo, Uruguay Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelEllis, Martin论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel Meir Med Ctr, Hematol Inst, Kefar Sava, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelWolach, Ofir论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel Rabin Med Ctr, Davidoff Canc Ctr, Inst Hematol, Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelPazgal, Idit论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel Beilinson Med Ctr, Rabin Med Ctr, Inst Hematol, Comprehens Ctr Thalassemia Hemoglobinopathies & R, Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelAbu Quider, Abed论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Soroka Univ Med Ctr, Pediat Hematol, Beer Sheva, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelMiskin, Hagit论文数: 0 引用数: 0 h-index: 0机构: Shaare Zedek Med Ctr, Pediat Hematol Unit, Jerusalem, Israel Hebrew Univ Jerusalem, Fac Med, Jerusalem, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, IsraelTamary, Hannah论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Petah Tiqwa, Israel Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Petah Tiqwa, Israel
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