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- [1] DEVELOPMENT OF A COMPREHENSIVE RAPID NEXT-GENERATION SEQUENCING ASSAY FOR THE DIAGNOSIS OF INHERITED HEMOLYTIC ANEMIA[J]. PEDIATRIC BLOOD & CANCER, 2014, 61 : S59 - S60Begtrup, Amber Hogart论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USADagaonkar, Neha论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USAChonat, Satheesh论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USAGiger, Katie论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USAHusami, Ammar论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USAKissell, Diane论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USARisinger, Mary论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USAJoiner, Clinton论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USAKeddache, Mehdi论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USAZhang, Kejian论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USAKalfa, Theodosia论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA
- [2] A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa[J]. PEDIATRIC DERMATOLOGY, 2018, 35 (02) : 188 - 197Lucky, Anne W.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Div Gen & Community Pediat, Cincinnati, OH USA Cincinnati Childrens Hosp, Cincinnati Childrens Epidermolysis Bullosa Ctr, Cincinnati, OH USA Cincinnati Childrens Hosp, Div Gen & Community Pediat, Cincinnati, OH USADagaonkar, Neha论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Div Human Genet, Cincinnati, OH USA Cincinnati Childrens Hosp, Div Gen & Community Pediat, Cincinnati, OH USALammers, Karen论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Div Gen & Community Pediat, Cincinnati, OH USA Cincinnati Childrens Hosp, Cincinnati Childrens Epidermolysis Bullosa Ctr, Cincinnati, OH USA Cincinnati Childrens Hosp, Div Gen & Community Pediat, Cincinnati, OH USAHusami, Ammar论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Div Human Genet, Cincinnati, OH USA Cincinnati Childrens Hosp, Div Gen & Community Pediat, Cincinnati, OH USAKissell, Diane论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Div Human Genet, Cincinnati, OH USA Cincinnati Childrens Hosp, Div Gen & Community Pediat, Cincinnati, OH USAZhang, Kejian论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Div Human Genet, Cincinnati, OH USA Cincinnati Childrens Hosp, Div Gen & Community Pediat, Cincinnati, OH USA
- [3] A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia[J]. RESEARCH AND PRACTICE IN THROMBOSIS AND HAEMOSTASIS, 2018, 2 (04) : 640 - 652Johnson, Ben论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, EnglandDoak, Rachel论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens Hosp, West Midlands Reg Genet Lab, Birmingham, W Midlands, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, EnglandAllsup, David论文数: 0 引用数: 0 h-index: 0机构: Univ Hull, Hull York Med Sch, Kingston Upon Hull, N Humberside, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, EnglandAstwood, Emma论文数: 0 引用数: 0 h-index: 0机构: Nottingham Univ Hosp, Nottingham Haemophilia Ctr, Nottingham, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, EnglandEvans, Gillian论文数: 0 引用数: 0 h-index: 0机构: Kent & Canterbury Hosp, Kent Haemophilia Ctr, Canterbury, Kent, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, EnglandGrimley, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Nottingham Univ Hosp, Nottingham Haemophilia Ctr, Nottingham, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, EnglandJames, Beki论文数: 0 引用数: 0 h-index: 0机构: Leeds Childrens Hosp, Reg Ctr Paediat Haematol, Leeds, W Yorkshire, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, EnglandMyers, Bethan论文数: 0 引用数: 0 h-index: 0机构: Lincoln Cty Hosp, Dept Haematol, Lincoln, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, EnglandStokley, Simone论文数: 0 引用数: 0 h-index: 0机构: Nottingham Univ Hosp, Nottingham Haemophilia Ctr, Nottingham, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, EnglandThachil, Jecko论文数: 0 引用数: 0 h-index: 0机构: Manchester Royal Infirm, Dept Haematol, Manchester, Lancs, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, EnglandWilde, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp NHS Fdn Trust, Comprehens Care Haemophilia Ctr, Birmingham, W Midlands, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, EnglandWilliams, Mike论文数: 0 引用数: 0 h-index: 0机构: Birmingham Childrens Hosp, Dept Haematol, Birmingham, W Midlands, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, EnglandMakris, Mike论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Med Sch, Dept Infect Immun & Cardiovasc Sci, Sheffield, S Yorkshire, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, EnglandLowe, Gillian C.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp NHS Fdn Trust, Comprehens Care Haemophilia Ctr, Birmingham, W Midlands, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, EnglandWallis, Yvonne论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens Hosp, West Midlands Reg Genet Lab, Birmingham, W Midlands, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, EnglandDaly, Martina E.论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Med Sch, Dept Infect Immun & Cardiovasc Sci, Sheffield, S Yorkshire, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, EnglandMorgan, Neil, V论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, England
- [4] Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies[J]. JOURNAL OF CLINICAL MEDICINE, 2022, 11 (10)Barbosa-Gouveia, Sofia论文数: 0 引用数: 0 h-index: 0机构: Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, IDIS Hlth Res Inst Santiago de Compostela, Ctr Invest Biomed Red Enfermedades Raras CIBERER, European Reference Network Hereditary Metab Disor, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainEugenia Vazquez-Mosquera, Maria论文数: 0 引用数: 0 h-index: 0机构: Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, IDIS Hlth Res Inst Santiago de Compostela, Ctr Invest Biomed Red Enfermedades Raras CIBERER, European Reference Network Hereditary Metab Disor, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainGonzalez-Vioque, Emiliano论文数: 0 引用数: 0 h-index: 0机构: Puerta de Hierro Majadahonda Univ Hosp, Dept Clin Biochem, Majadahonda 28222, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainHermida-Ameijeiras, Alvaro论文数: 0 引用数: 0 h-index: 0机构: Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, IDIS Hlth Res Inst Santiago de Compostela, Ctr Invest Biomed Red Enfermedades Raras CIBERER, European Reference Network Hereditary Metab Disor, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainSanchez-Pintos, Paula论文数: 0 引用数: 0 h-index: 0机构: Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, IDIS Hlth Res Inst Santiago de Compostela, Ctr Invest Biomed Red Enfermedades Raras CIBERER, European Reference Network Hereditary Metab Disor, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainJose de Castro, Maria论文数: 0 引用数: 0 h-index: 0机构: Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, IDIS Hlth Res Inst Santiago de Compostela, Ctr Invest Biomed Red Enfermedades Raras CIBERER, European Reference Network Hereditary Metab Disor, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainLeon, Soraya Ramiro论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Getafe, Genet Dept, Madrid 28905, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainGil-Fournier, Belen论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Getafe, Genet Dept, Madrid 28905, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainDominguez-Gonzalez, Cristina论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Imas12 Res Inst, Neuromuscular Unit, Madrid 28041, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid 28029, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainCamacho Salas, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Complutense Madrid, Hosp Univ 12 Octubre, Pediat Neurol Unit, Madrid 28041, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainNegrao, Luis论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra, Neurol Serv, Neuromuscular Dis Unit, P-3000075 Coimbra, Portugal Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainFineza, Isabel论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra Coimbra Portugal, Hosp Pediatr, Child Dev Ctr, Pediat Neurol Dept, P-3000075 Coimbra, Portugal Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainLaranjeira, Francisco论文数: 0 引用数: 0 h-index: 0机构: Ctr Genet Med Doutor Jacinto Magalhaes, Biochem Genet Unit, P-4050466 Porto, Portugal Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainLuz Couce, Maria论文数: 0 引用数: 0 h-index: 0机构: Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, IDIS Hlth Res Inst Santiago de Compostela, Ctr Invest Biomed Red Enfermedades Raras CIBERER, European Reference Network Hereditary Metab Disor, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, Spain
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- [6] Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing[J]. ANEMIA, 2012, 2012Ameziane, Najim论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, NetherlandsSie, Daoud论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Pathol, NL-1081 HV Amsterdam, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, NetherlandsDentro, Stefan论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, NetherlandsAriyurek, Yavuz论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Ctr Human & Clin Genet, Leiden Genome Technol Ctr, Med Ctr, NL-2333 ZC Leiden, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, NetherlandsKerkhoven, Lianne论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, NetherlandsJoenje, Hans论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, NetherlandsDorsman, Josephine C.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, NetherlandsYlstra, Bauke论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Pathol, NL-1081 HV Amsterdam, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, NetherlandsGille, Johan J. P.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, NetherlandsSistermans, Erik A.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, Netherlandsde Winter, Johan P.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, Netherlands
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