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- [1] High-throughput Sequencing in genetic-based Diagnosis of Patients with CTCLJOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2018, 16 : 16 - 16Cieslak, C.论文数: 0 引用数: 0 h-index: 0机构: Johannes Wesling Klinikum Minden, Univ Klin Dermatol Venerol Allergol & Phlebol, Minden, Germany Johannes Wesling Klinikum Minden, Univ Klin Dermatol Venerol Allergol & Phlebol, Minden, GermanyStranzenbach, R.论文数: 0 引用数: 0 h-index: 0机构: Johannes Wesling Klinikum Minden, Univ Klin Dermatol Venerol Allergol & Phlebol, Minden, Germany Johannes Wesling Klinikum Minden, Univ Klin Dermatol Venerol Allergol & Phlebol, Minden, GermanyHain, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Bielefeld, Ctr Biotechnol CeBiTec, Bielefeld, Germany Johannes Wesling Klinikum Minden, Univ Klin Dermatol Venerol Allergol & Phlebol, Minden, GermanyMentz, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Bielefeld, Ctr Biotechnol CeBiTec, Bielefeld, Germany Johannes Wesling Klinikum Minden, Univ Klin Dermatol Venerol Allergol & Phlebol, Minden, GermanyKalinowski, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Bielefeld, Ctr Biotechnol CeBiTec, Bielefeld, Germany Johannes Wesling Klinikum Minden, Univ Klin Dermatol Venerol Allergol & Phlebol, Minden, GermanyStadler, R.论文数: 0 引用数: 0 h-index: 0机构: Johannes Wesling Klinikum Minden, Univ Klin Dermatol Venerol Allergol & Phlebol, Minden, Germany Johannes Wesling Klinikum Minden, Univ Klin Dermatol Venerol Allergol & Phlebol, Minden, Germany
- [2] High-Throughput Sequencing and Rare Genetic DiseasesMOLECULAR SYNDROMOLOGY, 2012, 3 (05) : 197 - 203Makrythanasis, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandAntonarakis, S. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Geneva, Serv Genet Med, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
- [3] OUTCOMES OF ADDING HIGH-THROUGHPUT GENETIC SEQUENCING IN THE DIAGNOSIS OF ADULT CYSTIC FIBROSISPEDIATRIC PULMONOLOGY, 2019, 54 : S245 - S245Kalra, S.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, New Haven, CT USA Yale Univ, New Haven, CT USAIezzi, S.论文数: 0 引用数: 0 h-index: 0机构: Yale New Haven Med Ctr, Pulm & Crit Care Med, 20 York St, New Haven, CT 06504 USA Yale Univ, New Haven, CT USACretella, K.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, New Haven, CT USA Yale Univ, New Haven, CT USAScharfe, C.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, New Haven, CT USA Yale Univ, New Haven, CT USAKoff, J.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, New Haven, CT USA Yale New Haven Med Ctr, Pulm & Crit Care Med, 20 York St, New Haven, CT 06504 USA Yale Univ, New Haven, CT USA
- [4] Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice?FRONTIERS IN GENETICS, 2020, 11De Cario, Rosina论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Dept Expt & Clin Med, Florence, Italy Univ Florence, Dept Expt & Clin Med, Florence, ItalyKura, Ada论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Dept Expt & Clin Med, Florence, Italy Univ Florence, Dept Expt & Clin Med, Florence, ItalySuraci, Samuele论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Dept Expt & Clin Med, Florence, Italy Univ Florence, Dept Expt & Clin Med, Florence, ItalyMagi, Alberto论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Dept Informat Engn, Florence, Italy Univ Florence, Dept Expt & Clin Med, Florence, Italy论文数: 引用数: h-index:机构:Marcucci, Rossella论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Dept Expt & Clin Med, Florence, Italy Careggi Univ Hosp, Atherothrombot Dis Ctr, Florence, Italy Univ Florence, Dept Expt & Clin Med, Florence, ItalyGori, Anna Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Dept Expt & Clin Med, Florence, Italy Careggi Univ Hosp, Atherothrombot Dis Ctr, Florence, Italy Univ Florence, Dept Expt & Clin Med, Florence, Italy论文数: 引用数: h-index:机构:Giusti, Betti论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Dept Expt & Clin Med, Florence, Italy Careggi Univ Hosp, Atherothrombot Dis Ctr, Florence, Italy Univ Florence, Dept Expt & Clin Med, Florence, ItalySticchi, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Dept Expt & Clin Med, Florence, Italy Careggi Univ Hosp, Atherothrombot Dis Ctr, Florence, Italy Univ Florence, Dept Expt & Clin Med, Florence, Italy
- [5] Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disordersHAEMATOLOGICA, 2018, 103 (01) : 148 - 162Bastida, Jose M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, Spain Spanish Soc Thrombosis & Haemostasis, Hemorrhag Diathesis Working Grp, Project Funct & Mol Characterizat Patients Inheri, Bilbao, Spain Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, Spain论文数: 引用数: h-index:机构:Benito, Rocio论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, CSIC, CIC, IBSAL,IBMCC, Salamanca, Spain Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainJanusz, Kamila论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, CSIC, CIC, IBSAL,IBMCC, Salamanca, Spain Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainPalma-Barqueros, Veronica论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Serv Hematol & Oncol Med, Hosp Univ Morales Meseguer, IMIB Arrixaca,Ctr Reg Hemodonac,CIBERER CB15 0005, Murcia, Spain Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainDel Rey, Monica论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, CSIC, CIC, IBSAL,IBMCC, Salamanca, Spain Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainHernandez-Sanchez, Jesus M.论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, CSIC, CIC, IBSAL,IBMCC, Salamanca, Spain Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainRiesco, Susana论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Salamanca, IBSAL, Serv Pediat, Salamanca, Spain Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainBermejo, Nuria论文数: 0 引用数: 0 h-index: 0机构: Complejo Hosp San Pedro Alcantara, Serv Hematol, Caceres, Spain Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainGonzalez-Garcia, Hermenegildo论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Valladolid, Serv Pediat, Valladolid, Spain Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainRodriguez-Alen, Agustin论文数: 0 引用数: 0 h-index: 0机构: Complejo Hosp Toledo, Hosp Virgen Salud, Serv Hematol & Hemoterapia, Toledo, Spain Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainAguilar, Carlos论文数: 0 引用数: 0 h-index: 0机构: Complejo Asistencial Soria, Serv Hematol, Soria, Spain Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainSevivas, Teresa论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp, Serv Imunohemoterapia Sangue & Med Transfus, Coimbra, Portugal Univ Coimbra, EPE, Coimbra, Portugal Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainLopez-Fernandez, Maria F.论文数: 0 引用数: 0 h-index: 0机构: Complejo Hosp Univ A Coruna, Serv Hematol & Hemoterapia, La Coruna, Spain Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainMarneth, Anna E.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, Dept Lab Med,Lab Hematol, Nijmegen, Netherlands Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, Spainvan der Reijden, Bert A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, Dept Lab Med,Lab Hematol, Nijmegen, Netherlands Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainMorgan, Neil V.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Birmingham Platelet Grp, Inst Cardiovasc Sci, Coll Med & Dent Sci, Birmingham, W Midlands, England Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainWatson, Steve P.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Birmingham Platelet Grp, Inst Cardiovasc Sci, Coll Med & Dent Sci, Birmingham, W Midlands, England Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainVicente, Vicente论文数: 0 引用数: 0 h-index: 0机构: Spanish Soc Thrombosis & Haemostasis, Hemorrhag Diathesis Working Grp, Project Funct & Mol Characterizat Patients Inheri, Bilbao, Spain Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainHernandez-Rivas, Jesus M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, Spain Univ Salamanca, CSIC, CIC, IBSAL,IBMCC, Salamanca, Spain Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainRivera, Jose论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Serv Hematol & Oncol Med, Hosp Univ Morales Meseguer, IMIB Arrixaca,Ctr Reg Hemodonac,CIBERER CB15 0005, Murcia, Spain Spanish Soc Thrombosis & Haemostasis, Hemorrhag Diathesis Working Grp, Project Funct & Mol Characterizat Patients Inheri, Bilbao, Spain Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, SpainGonzalez-Porras, Jose R.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, Spain Hosp Univ Salamanca, IBSAL, USAL, Serv Hematol, Salamanca, Spain
- [6] High-throughput sequencing to decipher the genetic heterogeneity of deafnessGENOME BIOLOGY, 2012, 13 (05):Brownstein, Zippora论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, IL-69978 Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, IL-69978 Tel Aviv, IsraelBhonker, Yoni论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, IL-69978 Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, IL-69978 Tel Aviv, IsraelAvraham, Karen B.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, IL-69978 Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, IL-69978 Tel Aviv, Israel
- [7] High-throughput sequencing to decipher the genetic heterogeneity of deafnessGenome Biology, 13Zippora Brownstein论文数: 0 引用数: 0 h-index: 0机构: Sackler Faculty of Medicine,Department of Human Molecular Genetics and BiochemistryYoni Bhonker论文数: 0 引用数: 0 h-index: 0机构: Sackler Faculty of Medicine,Department of Human Molecular Genetics and BiochemistryKaren B Avraham论文数: 0 引用数: 0 h-index: 0机构: Sackler Faculty of Medicine,Department of Human Molecular Genetics and Biochemistry
- [8] Noninvasive prenatal diagnosis empowered by high-throughput sequencingPRENATAL DIAGNOSIS, 2012, 32 (04) : 401 - 406Chiu, Rossa W. K.论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Ctr Res Circulating Fetal Nucle Acids, Li Ka Shing Inst Hlth Sci, Shatin, Hong Kong, Peoples R China Chinese Univ Hong Kong, Ctr Res Circulating Fetal Nucle Acids, Li Ka Shing Inst Hlth Sci, Shatin, Hong Kong, Peoples R ChinaLo, Y. M. Dennis论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Ctr Res Circulating Fetal Nucle Acids, Li Ka Shing Inst Hlth Sci, Shatin, Hong Kong, Peoples R China
- [9] Application of High-Throughput Sequencing in the Diagnosis of Inherited ThrombocytopeniaCLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS, 2018, 24 : 94S - 103SWang, Qi论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R China Soochow Univ, Collaborat Innovat Ctr Hematol, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R ChinaCao, Lijuan论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R China Soochow Univ, Collaborat Innovat Ctr Hematol, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R ChinaSheng, Guangying论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R China Soochow Univ, Collaborat Innovat Ctr Hematol, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R ChinaShen, Hongjie论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R China Soochow Univ, Collaborat Innovat Ctr Hematol, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R ChinaLing, Jing论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Childrens Hosp, Dept Hematol & Oncol, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R ChinaXie, Jundan论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R China Soochow Univ, Collaborat Innovat Ctr Hematol, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R ChinaMa, Zhenni论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R China Soochow Univ, Collaborat Innovat Ctr Hematol, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R ChinaYin, Jie论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R China Soochow Univ, Collaborat Innovat Ctr Hematol, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R ChinaWang, Zhaoyue论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R China Soochow Univ, Collaborat Innovat Ctr Hematol, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R ChinaYu, Ziqiang论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R China Soochow Univ, Collaborat Innovat Ctr Hematol, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R ChinaChen, Suning论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R China Soochow Univ, Collaborat Innovat Ctr Hematol, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R ChinaZhao, Yiming论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R China Soochow Univ, Collaborat Innovat Ctr Hematol, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R ChinaRuan, Changgeng论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R China Soochow Univ, Collaborat Innovat Ctr Hematol, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R ChinaXia, Lijun论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R China Soochow Univ, Collaborat Innovat Ctr Hematol, Suzhou, Peoples R China Oklahoma Med Res Fdn, Cardiovasc Biol Res Program, Oklahoma City, OK 73104 USA Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R ChinaJiang, Miao论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R China Soochow Univ, Collaborat Innovat Ctr Hematol, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Jiangsu Inst Hematol, Key Lab Thrombosis & Hemostasis,Minist Hlth, Suzhou, Peoples R China
- [10] Genetic Causes and Biological Pathways Elucidated by Exome Sequencing in Patients with Cerebral PalsyANNALS OF NEUROLOGY, 2022, 92 : S110 - S110Srivastava, S.论文数: 0 引用数: 0 h-index: 0Chopra, M.论文数: 0 引用数: 0 h-index: 0Gable, D.论文数: 0 引用数: 0 h-index: 0Poduri, A.论文数: 0 引用数: 0 h-index: 0