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- [42] Next-Generation Sequencing to Diagnose Suspected Genetic DisordersNEW ENGLAND JOURNAL OF MEDICINE, 2018, 379 (14): : 1353 - 1362Adams, David R.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Bethesda, MD 20892 USA NIH, Undiagnosed Dis Program, Bldg 10,Rm 10C103E,10 Ctr Dr, Bethesda, MD 20892 USA NHGRI, Bethesda, MD 20892 USAEng, Christine M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX USA NHGRI, Bethesda, MD 20892 USA
- [43] Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencingScientific Reports, 11Shalini S. Nayak论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegePauline E. Schneeberger论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeSiddaramappa J. Patil论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeKaregowda M. Arun论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegePujar V. Suresh论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeViralam S. Kiran论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeSateesh Siddaiah论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeShreesha Maiya论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeShrikanth K. Venkatachalagupta论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeNeethukrishna Kausthubham论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeFanny Kortüm论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeIsabella Rau论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeAlexandra Wey-Fabrizius论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeLotte Van Den Heuvel论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeJosephina Meester论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeLut Van Laer论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeAnju Shukla论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeBart Loeys论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeKatta M. Girisha论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical CollegeKerstin Kutsche论文数: 0 引用数: 0 h-index: 0机构: Manipal Academy of Higher Education,Department of Medical Genetics, Kasturba Medical College
- [44] Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencingSCIENTIFIC REPORTS, 2021, 11 (01)Nayak, Shalini S.论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, IndiaSchneeberger, Pauline E.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, Germany Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, IndiaPatil, Siddaramappa J.论文数: 0 引用数: 0 h-index: 0机构: Narayana Hrudayalaya Hosp, Mazumdar Shaw Med Ctr, Bangalore, Karnataka, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, IndiaArun, Karegowda M.论文数: 0 引用数: 0 h-index: 0机构: Narayana Hrudayalaya Hosp, Mazumdar Shaw Med Ctr, Bangalore, Karnataka, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, IndiaSuresh, Pujar, V论文数: 0 引用数: 0 h-index: 0机构: Narayana Hrudayalaya Hosp, Mazumdar Shaw Med Ctr, Bangalore, Karnataka, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, IndiaKiran, Viralam S.论文数: 0 引用数: 0 h-index: 0机构: Narayana Hrudayalaya Hosp, Mazumdar Shaw Med Ctr, Bangalore, Karnataka, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, IndiaSiddaiah, Sateesh论文数: 0 引用数: 0 h-index: 0机构: Narayana Hrudayalaya Hosp, Mazumdar Shaw Med Ctr, Bangalore, Karnataka, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, IndiaMaiya, Shreesha论文数: 0 引用数: 0 h-index: 0机构: Narayana Hrudayalaya Hosp, Mazumdar Shaw Med Ctr, Bangalore, Karnataka, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, IndiaVenkatachalagupta, Shrikanth K.论文数: 0 引用数: 0 h-index: 0机构: Narayana Hrudayalaya Hosp, Mazumdar Shaw Med Ctr, Bangalore, Karnataka, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, IndiaKausthubham, Neethukrishna论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, IndiaKortum, Fanny论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, Germany Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, IndiaRau, Isabella论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, Germany Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, IndiaWey-Fabrizius, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, Germany Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, IndiaVan den Heuvel, Lotte论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Ctr Med Genet, Antwerp, Belgium Antwerp Univ Hosp, Antwerp, Belgium Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, India论文数: 引用数: h-index:机构:Van Laer, Lut论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Ctr Med Genet, Antwerp, Belgium Antwerp Univ Hosp, Antwerp, Belgium Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, IndiaShukla, Anju论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, India论文数: 引用数: h-index:机构:Girisha, Katta M.论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, IndiaKutsche, Kerstin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Martinistr 52, D-20246 Hamburg, Germany Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, India
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- [46] Treatment of myelodysplastic syndrome in the era of next-generation sequencingJOURNAL OF INTERNAL MEDICINE, 2019, 286 (01) : 41 - 62论文数: 引用数: h-index:机构:Kittang, A. O.论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Dept Clin Sci, Bergen, Norway Haukeland Hosp, Sect Hematol, Dept Med, Bergen, Norway Karolinska Univ Hosp, Dept Hematol, R51141 86, Stockholm, Sweden
- [47] MULTIDISCIPLINARY APPROACH IMPROVES GENETIC DIAGNOSIS OF ALPORT SYNDROME IN THE NEXT-GENERATION SEQUENCING ERANEPHROLOGY DIALYSIS TRANSPLANTATION, 2022, 37 : I18 - I19Galan Carrillo, Isabel论文数: 0 引用数: 0 h-index: 0机构: Morales Meseguer Hosp, Nephrol, Murcia, Spain Morales Meseguer Hosp, Nephrol, Murcia, SpainGalbis, Liliana论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen de la Arrixaca, Biochem & Clin Genet, Murcia, Spain Morales Meseguer Hosp, Nephrol, Murcia, SpainMartinez Jimenez, Victor论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen de la Arrixaca, Nephrol, Murcia, Spain Morales Meseguer Hosp, Nephrol, Murcia, SpainPablo Ortuno, Pedro论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen de la Arrixaca, Nephrol, Murcia, Spain Morales Meseguer Hosp, Nephrol, Murcia, SpainRoca, Susana论文数: 0 引用数: 0 h-index: 0机构: Santa Lucia Hosp, Nephrol, Cartagena, Spain Morales Meseguer Hosp, Nephrol, Murcia, SpainDavid Castro, Juan论文数: 0 引用数: 0 h-index: 0机构: Santa Lucia Hosp, Pediat, Cartagena, Spain Morales Meseguer Hosp, Nephrol, Murcia, SpainRamos, Fernanda论文数: 0 引用数: 0 h-index: 0机构: Reina Sofia Hosp, Nephrol, Murcia, Spain Morales Meseguer Hosp, Nephrol, Murcia, SpainRodriguez, Lidia论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen de la Arrixaca, Med Genet, Murcia, Spain Morales Meseguer Hosp, Nephrol, Murcia, SpainGuillen, Encarnacion论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen de la Arrixaca, Med Genet, Murcia, Spain Morales Meseguer Hosp, Nephrol, Murcia, Spain
- [48] GENETIC ANALYSIS OF NEPHROTIC SYNDROME BY NEXT-GENERATION SEQUENCING IN CHILDREN SUBMITTED TO KIDNEY TRANSPLANTPEDIATRIC NEPHROLOGY, 2016, 31 (10) : 1748 - 1748Feltran, L. D. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, Brazil Hosp Samaritano Sao Paulo, Sao Paulo, Brazil Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, BrazilVarela, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, Brazil Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, BrazilVeronez, C. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, Brazil Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, BrazilFranco, M. D. C. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, Brazil Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, BrazilSilva Filho, A. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, Brazil Hosp Samaritano Sao Paulo, Sao Paulo, Brazil Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, BrazilCamargo, M. F.论文数: 0 引用数: 0 h-index: 0机构: Hosp Samaritano Sao Paulo, Sao Paulo, Brazil Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, BrazilKoch Nogueira, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, Brazil Hosp Samaritano Sao Paulo, Sao Paulo, Brazil Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, BrazilPesquero, J. B.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, Brazil Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, Brazil
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