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- [1] A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing lossBLOOD, 2016, 127 (23) : 2903 - 2914Stritt, Simon论文数: 0 引用数: 0 h-index: 0机构: Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, Germany Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyNurden, Paquita论文数: 0 引用数: 0 h-index: 0机构: Hop Xavier Arnozan, Inst Hosp Univ Inst RYthmol & Modelisat Cardiaque, Plateforme Technol & Innovat Biomed, Pessac, France CHU Timone, French Reference Ctr Inherited Platelet Disorders, Marseille, France Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyTurro, Ernest论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Natl Hlth Serv Blood & Transplant, Cambridge Biomed Campus, Cambridge CB2 0PT, England Cambridge Inst Publ Hlth, MRC, Biostat Unit, Cambridge Biomed Campus, Cambridge, England Cambridge Univ Hosp, Natl Inst Hlth Res BioResource Rare Dis, Cambridge Biomed Campus, Cambridge, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyGreene, Daniel论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Cambridge Inst Publ Hlth, MRC, Biostat Unit, Cambridge Biomed Campus, Cambridge, England Cambridge Univ Hosp, Natl Inst Hlth Res BioResource Rare Dis, Cambridge Biomed Campus, Cambridge, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyJansen, Sjoert B.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Natl Hlth Serv Blood & Transplant, Cambridge Biomed Campus, Cambridge CB2 0PT, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyWestbury, Sarah K.论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Sch Clin Sci, Bristol, Avon, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyPetersen, Romina论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Natl Hlth Serv Blood & Transplant, Cambridge Biomed Campus, Cambridge CB2 0PT, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyAstle, William J.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Natl Hlth Serv Blood & Transplant, Cambridge Biomed Campus, Cambridge CB2 0PT, England Cambridge Inst Publ Hlth, MRC, Biostat Unit, Cambridge Biomed Campus, Cambridge, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyMarlin, Sandrine论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Gen Med Serv, Ctr Reference Surdites Genet, Paris, France Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyBariana, Tadbir K.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Canc, Dept Haematol, London, England Royal Free London Natl Hlth Serv Fdn Trust, Katharine Dormandy Haemophilia Ctr, London, England Royal Free London Natl Hlth Serv Fdn Trust, Thrombosis Unit, London, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyKostadima, Myrto论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Natl Hlth Serv Blood & Transplant, Cambridge Biomed Campus, Cambridge CB2 0PT, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyLentaigne, Claire论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci Technol & Med, Imperial Coll Acad Hlth Sci Ctr, Ctr Haematol, Hammersmith Campus, London, England Imperial Coll Healthcare Natl Hlth Serv Trust, London, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyMaiwald, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Natl Hlth Serv Blood & Transplant, Cambridge Biomed Campus, Cambridge CB2 0PT, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyPapadia, Sofia论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Cambridge Univ Hosp, Natl Inst Hlth Res BioResource Rare Dis, Cambridge Biomed Campus, Cambridge, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyKelly, Anne M.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Natl Hlth Serv Blood & Transplant, Cambridge Biomed Campus, Cambridge CB2 0PT, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyStephens, Jonathan C.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Natl Hlth Serv Blood & Transplant, Cambridge Biomed Campus, Cambridge CB2 0PT, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyPenkett, Christopher J.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Cambridge Univ Hosp, Natl Inst Hlth Res BioResource Rare Dis, Cambridge Biomed Campus, Cambridge, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyAshford, Sofie论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Cambridge Univ Hosp, Natl Inst Hlth Res BioResource Rare Dis, Cambridge Biomed Campus, Cambridge, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyTuna, Salih论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Cambridge Univ Hosp, Natl Inst Hlth Res BioResource Rare Dis, Cambridge Biomed Campus, Cambridge, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyAustin, Steve论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas Natl Hlth Serv Fdn Trust, Dept Haematol, London, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyBakchoul, Tamam论文数: 0 引用数: 0 h-index: 0机构: Univ Med Greifswald, Inst Immunol & Transfus Med, Greifswald, Germany Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyCollins, Peter论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Sch Med, Inst Infect & Immun, Arthur Bloom Haemophilia Ctr, Cardiff CF10 3AX, S Glam, Wales Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyFavier, Remi论文数: 0 引用数: 0 h-index: 0机构: Armand Trousseau Children Hosp, AP HP, Paris, France INSERM U1170, Villejuif, France Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyLambert, Michele P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Hematol, Philadelphia, PA 19104 USA Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyMathias, Mary论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children Natl Hlth Serv Fdn, Dept Haematol, London, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyMillar, Carolyn M.论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci Technol & Med, Imperial Coll Acad Hlth Sci Ctr, Ctr Haematol, Hammersmith Campus, London, England Imperial Coll Healthcare Natl Hlth Serv Trust, London, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyMapeta, Rutendo论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Cambridge Univ Hosp, Natl Inst Hlth Res BioResource Rare Dis, Cambridge Biomed Campus, Cambridge, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyPerry, David J.论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp Natl Hlth Serv Fdn Trust, Addenbrookes Hosp, Dept Haematol, Cambridge Biomed Campus, Cambridge, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, Germany论文数: 引用数: h-index:机构:Simeoni, Ilenia论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Cambridge Univ Hosp, Natl Inst Hlth Res BioResource Rare Dis, Cambridge Biomed Campus, Cambridge, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyThys, Chantal论文数: 0 引用数: 0 h-index: 0机构: Univ Leuven, Ctr Mol & Vasc Biol, Dept Cardiovasc Sci, Gasthuisberg O&N1,Herestr 49 Box 911, B-3000 Leuven, Belgium Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyGomez, Keith论文数: 0 引用数: 0 h-index: 0机构: Royal Free London Natl Hlth Serv Fdn Trust, Katharine Dormandy Haemophilia Ctr, London, England Royal Free London Natl Hlth Serv Fdn Trust, Thrombosis Unit, London, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyErber, Wendy N.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Pathol & Lab Med, Crawley, WA, Australia Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyStirrups, Kathleen论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Cambridge Univ Hosp, Natl Inst Hlth Res BioResource Rare Dis, Cambridge Biomed Campus, Cambridge, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyRendon, Augusto论文数: 0 引用数: 0 h-index: 0机构: Genom England Ltd, London, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyBradley, John R.论文数: 0 引用数: 0 h-index: 0机构: Natl Hlth Serv Blood & Transplant, Cambridge Biomed Campus, Cambridge CB2 0PT, England Cambridge Univ Hosp Natl Hlth Serv Fdn Trust, Res & Dev, Cambridge, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, Germanyvan Geet, Chris论文数: 0 引用数: 0 h-index: 0机构: Univ Leuven, Ctr Mol & Vasc Biol, Dept Cardiovasc Sci, Gasthuisberg O&N1,Herestr 49 Box 911, B-3000 Leuven, Belgium Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyRaymond, F. Lucy论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp, Natl Inst Hlth Res BioResource Rare Dis, Cambridge Biomed Campus, Cambridge, England Univ Cambridge, Dept Med Genet, Cambridge Inst Med Res, Cambridge, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyLaffan, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci Technol & Med, Imperial Coll Acad Hlth Sci Ctr, Ctr Haematol, Hammersmith Campus, London, England Imperial Coll Healthcare Natl Hlth Serv Trust, London, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyNurden, Alan T.论文数: 0 引用数: 0 h-index: 0机构: Hop Xavier Arnozan, Inst Hosp Univ Inst RYthmol & Modelisat Cardiaque, Plateforme Technol & Innovat Biomed, Pessac, France CHU Timone, French Reference Ctr Inherited Platelet Disorders, Marseille, France Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyNieswandt, Bernhard论文数: 0 引用数: 0 h-index: 0机构: Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, Germany Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyRichardson, Sylvia论文数: 0 引用数: 0 h-index: 0机构: Cambridge Inst Publ Hlth, MRC, Biostat Unit, Cambridge Biomed Campus, Cambridge, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyFreson, Kathleen论文数: 0 引用数: 0 h-index: 0机构: Univ Leuven, Ctr Mol & Vasc Biol, Dept Cardiovasc Sci, Gasthuisberg O&N1,Herestr 49 Box 911, B-3000 Leuven, Belgium Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyOuwehand, Willem H.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Natl Hlth Serv Blood & Transplant, Cambridge Biomed Campus, Cambridge CB2 0PT, England Cambridge Univ Hosp, Natl Inst Hlth Res BioResource Rare Dis, Cambridge Biomed Campus, Cambridge, England Wellcome Trust Sanger Inst, Human Genet, Wellcome Trust Genome Campus, Cambridge, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, GermanyMumford, Andrew D.论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Sch Cellular & Mol Med, Bristol, Avon, England Univ Wurzburg, Univ Hosp, Rudolf Virchow Ctr, Dept Expt Biomed, D-97070 Wurzburg, Germany
- [2] Variable Autoinhibition among Deafness-Associated Variants of Diaphanous 1 (DIAPH1)BIOCHEMISTRY, 2021, 60 (29) : 2320 - 2329Lakha, Rabina论文数: 0 引用数: 0 h-index: 0机构: Barnard Coll, Dept Chem, New York, NY 10027 USA Barnard Coll, Dept Chem, New York, NY 10027 USAMontero, Angela M.论文数: 0 引用数: 0 h-index: 0机构: Barnard Coll, Dept Chem, New York, NY 10027 USA Barnard Coll, Dept Chem, New York, NY 10027 USAJabeen, Tayyaba论文数: 0 引用数: 0 h-index: 0机构: Barnard Coll, Dept Chem, New York, NY 10027 USA Barnard Coll, Dept Chem, New York, NY 10027 USACosteas, Christina C.论文数: 0 引用数: 0 h-index: 0机构: Barnard Coll, Dept Chem, New York, NY 10027 USA Barnard Coll, Dept Chem, New York, NY 10027 USAMa, Jia论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Chem, New York, NY 10027 USA Barnard Coll, Dept Chem, New York, NY 10027 USAVizcarra, Christina L.论文数: 0 引用数: 0 h-index: 0机构: Barnard Coll, Dept Chem, New York, NY 10027 USA Barnard Coll, Dept Chem, New York, NY 10027 USA
- [3] A Novel Variant in the DIAPH1 Gene Causing Macrothrombocytopenia and Non-syndromic Hearing Loss in a Pediatric Saudi GirlCUREUS JOURNAL OF MEDICAL SCIENCE, 2024, 16 (05)Alasmari, Badriah G.论文数: 0 引用数: 0 h-index: 0机构: Armed Forces Hosp Southern Reg, Pediat Hematol & Oncol, Khamis Mushayt, Saudi Arabia Armed Forces Hosp Southern Reg, Pediat Hematol & Oncol, Khamis Mushayt, Saudi ArabiaAlpakra, Mohammed论文数: 0 引用数: 0 h-index: 0机构: Armed Forces Hosp Southern Reg, Pediat Hematol & Oncol, Khamis Mushayt, Saudi Arabia Armed Forces Hosp Southern Reg, Pediat Hematol & Oncol, Khamis Mushayt, Saudi ArabiaHassanien, Sara S.论文数: 0 引用数: 0 h-index: 0机构: Armed Forces Hosp Southern Reg, Pediat Hematol & Oncol, Khamis Mushait, Saudi Arabia Armed Forces Hosp Southern Reg, Pediat Hematol & Oncol, Khamis Mushayt, Saudi ArabiaElmugadam, Abdelhakam A.论文数: 0 引用数: 0 h-index: 0机构: Armed Forces Hosp Southern Reg, Pediat Hematol & Oncol, Khamis Mushayt, Saudi Arabia Armed Forces Hosp Southern Reg, Pediat Hematol & Oncol, Khamis Mushayt, Saudi ArabiaElzubair, Lina论文数: 0 引用数: 0 h-index: 0机构: Armed Forces Hosp Southern Reg, Hematopathol, Khamis Mushayt, Saudi Arabia Armed Forces Hosp Southern Reg, Pediat Hematol & Oncol, Khamis Mushayt, Saudi ArabiaSuliman, Enaam A.论文数: 0 引用数: 0 h-index: 0机构: Armed Forces Hosp Southern Reg, Hematopathol, Khamis Mushayt, Saudi Arabia Armed Forces Hosp Southern Reg, Pediat Hematol & Oncol, Khamis Mushayt, Saudi ArabiaAlghubishi, Somayah A.论文数: 0 引用数: 0 h-index: 0机构: Armed Forces Hosp Southern Reg, Pediat, Khamis Mushayt, Saudi Arabia Armed Forces Hosp Southern Reg, Pediat Hematol & Oncol, Khamis Mushayt, Saudi Arabia
- [4] Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related diseaseAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (10) : 2826 - 2830Ganaha, Akira论文数: 0 引用数: 0 h-index: 0机构: Univ Ryukyus, Dept Otorhinolaryngol Head & Neck Surg, 207 Uehara, Nishihara, Okinawa 9030125, Japan Univ Ryukyus, Dept Otorhinolaryngol Head & Neck Surg, 207 Uehara, Nishihara, Okinawa 9030125, JapanKaname, Tadashi论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Child Hlth & Dev, Dept Genome Med, Tokyo, Japan Univ Ryukyus, Dept Otorhinolaryngol Head & Neck Surg, 207 Uehara, Nishihara, Okinawa 9030125, JapanShinjou, Ayano论文数: 0 引用数: 0 h-index: 0机构: Univ Ryukyus, Dept Otorhinolaryngol Head & Neck Surg, 207 Uehara, Nishihara, Okinawa 9030125, Japan Univ Ryukyus, Dept Otorhinolaryngol Head & Neck Surg, 207 Uehara, Nishihara, Okinawa 9030125, JapanChinen, Yasutsugu论文数: 0 引用数: 0 h-index: 0机构: Univ Ryukyus, Dept Pediat, Fac Med, Nishihara, Okinawa, Japan Univ Ryukyus, Dept Otorhinolaryngol Head & Neck Surg, 207 Uehara, Nishihara, Okinawa 9030125, JapanYanagi, Kumiko论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Child Hlth & Dev, Dept Genome Med, Tokyo, Japan Univ Ryukyus, Dept Otorhinolaryngol Head & Neck Surg, 207 Uehara, Nishihara, Okinawa 9030125, JapanHiga, Teruyuki论文数: 0 引用数: 0 h-index: 0机构: Univ Ryukyus, Dept Otorhinolaryngol Head & Neck Surg, 207 Uehara, Nishihara, Okinawa 9030125, Japan Univ Ryukyus, Dept Otorhinolaryngol Head & Neck Surg, 207 Uehara, Nishihara, Okinawa 9030125, JapanKondo, Shunsuke论文数: 0 引用数: 0 h-index: 0机构: Univ Ryukyus, Dept Otorhinolaryngol Head & Neck Surg, 207 Uehara, Nishihara, Okinawa 9030125, Japan Univ Ryukyus, Dept Otorhinolaryngol Head & Neck Surg, 207 Uehara, Nishihara, Okinawa 9030125, Japan论文数: 引用数: h-index:机构:
- [5] DIAPH1 Mutation as a Novel Cause of Autosomal Dominant Macrothrombocytopenia and Hearing LossACTA HAEMATOLOGICA, 2021, 144 (01) : 91 - 94Karki, Nabin Raj论文数: 0 引用数: 0 h-index: 0机构: Augusta Univ, Div Hematol Oncol, Georgia Canc Ctr, 1410 Laney Walker Blvd,CN 5347, Augusta, GA 30012 USA Augusta Univ, Div Hematol Oncol, Georgia Canc Ctr, 1410 Laney Walker Blvd,CN 5347, Augusta, GA 30012 USAAjebo, Germame论文数: 0 引用数: 0 h-index: 0机构: Augusta Univ, Div Hematol Oncol, Georgia Canc Ctr, 1410 Laney Walker Blvd,CN 5347, Augusta, GA 30012 USA Augusta Univ, Div Hematol Oncol, Georgia Canc Ctr, 1410 Laney Walker Blvd,CN 5347, Augusta, GA 30012 USA论文数: 引用数: h-index:机构:Kutlar, Abdullah论文数: 0 引用数: 0 h-index: 0机构: Augusta Univ, Div Hematol Oncol, Georgia Canc Ctr, 1410 Laney Walker Blvd,CN 5347, Augusta, GA 30012 USA Augusta Univ, Div Hematol Oncol, Georgia Canc Ctr, 1410 Laney Walker Blvd,CN 5347, Augusta, GA 30012 USA
- [6] An activating mutation of DIAPH1 encoding rho-effector diaphanous-related formin-1 causes inherited macrothrombocytopenia associated with sensorineural hearing loss in a french familyJOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2016, 14 : 105 - 106Stritt, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Wurzburg, Univ Hosp, Dept Expt Biomed, Wurzburg, Germany Univ Wurzburg, Rudolf Virchow Ctr, Dept Expt Biomed, Wurzburg, Germany Univ Wurzburg, Univ Hosp, Dept Expt Biomed, Wurzburg, GermanyNieswandt, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Wurzburg, Univ Hosp, Dept Expt Biomed, Wurzburg, Germany Univ Wurzburg, Rudolf Virchow Ctr, Dept Expt Biomed, Wurzburg, Germany Univ Wurzburg, Univ Hosp, Dept Expt Biomed, Wurzburg, GermanyMarlin, S.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Ctr Reference Surdites Genet, Serv Genet Med, Paris, France Univ Wurzburg, Univ Hosp, Dept Expt Biomed, Wurzburg, GermanyFavier, R.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, AP HP, Ctr Reference Pathol Plaquettaires, Paris, France Univ Wurzburg, Univ Hosp, Dept Expt Biomed, Wurzburg, GermanyBordet, J-C论文数: 0 引用数: 0 h-index: 0机构: Hop Eduard Herriot, Ctr Reference Pathol Plaquettaires, Lyon, France Univ Wurzburg, Univ Hosp, Dept Expt Biomed, Wurzburg, GermanyAlessi, M-C论文数: 0 引用数: 0 h-index: 0机构: CHU Timone, Ctr Reference Pathol Plaquettaires, Marseille, France Univ Wurzburg, Univ Hosp, Dept Expt Biomed, Wurzburg, GermanyNurden, A.论文数: 0 引用数: 0 h-index: 0机构: Inst Hosp Univ LIRYC, PTIB, Pessac, France Univ Wurzburg, Univ Hosp, Dept Expt Biomed, Wurzburg, GermanyNurden, P.论文数: 0 引用数: 0 h-index: 0机构: Inst Hosp Univ LIRYC, PTIB, Pessac, France Univ Wurzburg, Univ Hosp, Dept Expt Biomed, Wurzburg, Germany
- [7] Late-onset hearing loss case associated with a heterozygous truncating variant of DIAPH1CLINICAL GENETICS, 2022, 101 (04) : 466 - 471论文数: 引用数: h-index:机构:Miyoshi, Takushi论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Deafness & Other Commun Disorders, Lab Mol Genet, NIH, Bethesda, MD USA Kyoto Univ, Grad Sch Med, Dept Otolaryngol Head & Neck Surg, Kyoto, Japan Chungnam Natl Univ, Sejong Hosp, Dept Otolaryngol Head & Neck Surg, Coll Med, Sejong, South KoreaChaudhry, Taimur论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Deafness & Other Commun Disorders, Lab Mol Genet, NIH, Bethesda, MD USA Chungnam Natl Univ, Sejong Hosp, Dept Otolaryngol Head & Neck Surg, Coll Med, Sejong, South KoreaFriedman, Thomas B.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Deafness & Other Commun Disorders, Lab Mol Genet, NIH, Bethesda, MD USA Chungnam Natl Univ, Sejong Hosp, Dept Otolaryngol Head & Neck Surg, Coll Med, Sejong, South KoreaChoi, Byung Yoon论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Bundang Hosp, Dept Otorhinolaryngol, Seongnam, South Korea Chungnam Natl Univ, Sejong Hosp, Dept Otolaryngol Head & Neck Surg, Coll Med, Sejong, South Korea论文数: 引用数: h-index:机构:
- [8] Association between DIAPH1 variant and posterior circulation involvement with Moyamoya diseaseScientific Reports, 13Shihao He论文数: 0 引用数: 0 h-index: 0机构: Beijing Tiantan Hospital,Department of NeurosurgeryXiaokuan Hao论文数: 0 引用数: 0 h-index: 0机构: Beijing Tiantan Hospital,Department of NeurosurgeryZiqi Liu论文数: 0 引用数: 0 h-index: 0机构: Beijing Tiantan Hospital,Department of NeurosurgeryYanru Wang论文数: 0 引用数: 0 h-index: 0机构: Beijing Tiantan Hospital,Department of NeurosurgeryJunze Zhang论文数: 0 引用数: 0 h-index: 0机构: Beijing Tiantan Hospital,Department of NeurosurgeryXilong Wang论文数: 0 引用数: 0 h-index: 0机构: Beijing Tiantan Hospital,Department of NeurosurgeryFei Di论文数: 0 引用数: 0 h-index: 0机构: Beijing Tiantan Hospital,Department of NeurosurgeryRong Wang论文数: 0 引用数: 0 h-index: 0机构: Beijing Tiantan Hospital,Department of NeurosurgeryYuanli Zhao论文数: 0 引用数: 0 h-index: 0机构: Beijing Tiantan Hospital,Department of Neurosurgery
- [9] A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and AutoinflammationJOURNAL OF CLINICAL IMMUNOLOGY, 2023, 43 (02) : 512 - 520Sacco, Keith论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USA Phoenix Childrens Hosp, Div Pulmonol, Sect Allergy Immunol, Phoenix, AZ USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USAKuehn, Hye Sun论文数: 0 引用数: 0 h-index: 0机构: NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bethesda, MD USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USAKawai, Tomoki论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USAAlsaati, Nouf论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hosp, Div Allergy & Immunol, Washington, DC USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USASmith, Lauren论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Kings Daughters, Eastern Virginia Med Sch, Norfolk, VA USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USADavila, Blachy论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hosp, Div Allergy & Immunol, Washington, DC USA Childrens Natl Hosp, Div Blood & Marrow Transplantat, Washington, DC USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USABundy, Vanessa论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hosp, Div Allergy & Immunol, Washington, DC USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USAKuhns, Douglas B.论文数: 0 引用数: 0 h-index: 0机构: Frederick Natl Lab Canc Res, Leidos Biomed Res Inc, Frederick, MD USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USADobbs, Kerry论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USADelmonte, Ottavia论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USANotarangelo, Luigi D.论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USARosenzweig, Sergio D.论文数: 0 引用数: 0 h-index: 0机构: NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bethesda, MD USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USAKeller, Michael D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hosp, Div Allergy & Immunol, Washington, DC USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USA
- [10] A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and AutoinflammationJournal of Clinical Immunology, 2023, 43 : 512 - 520Keith Sacco论文数: 0 引用数: 0 h-index: 0机构: National Institute of Allergy and Infectious Diseases,Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural ResearchHye Sun Kuehn论文数: 0 引用数: 0 h-index: 0机构: National Institute of Allergy and Infectious Diseases,Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural ResearchTomoki Kawai论文数: 0 引用数: 0 h-index: 0机构: National Institute of Allergy and Infectious Diseases,Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural ResearchNouf Alsaati论文数: 0 引用数: 0 h-index: 0机构: National Institute of Allergy and Infectious Diseases,Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural ResearchLauren Smith论文数: 0 引用数: 0 h-index: 0机构: National Institute of Allergy and Infectious Diseases,Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural ResearchBlachy Davila论文数: 0 引用数: 0 h-index: 0机构: National Institute of Allergy and Infectious Diseases,Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural ResearchVanessa Bundy论文数: 0 引用数: 0 h-index: 0机构: National Institute of Allergy and Infectious Diseases,Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural ResearchDouglas B. Kuhns论文数: 0 引用数: 0 h-index: 0机构: National Institute of Allergy and Infectious Diseases,Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural ResearchKerry Dobbs论文数: 0 引用数: 0 h-index: 0机构: National Institute of Allergy and Infectious Diseases,Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural ResearchOttavia Delmonte论文数: 0 引用数: 0 h-index: 0机构: National Institute of Allergy and Infectious Diseases,Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural ResearchLuigi D. Notarangelo论文数: 0 引用数: 0 h-index: 0机构: National Institute of Allergy and Infectious Diseases,Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural ResearchSergio D. Rosenzweig论文数: 0 引用数: 0 h-index: 0机构: National Institute of Allergy and Infectious Diseases,Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural ResearchMichael D. Keller论文数: 0 引用数: 0 h-index: 0机构: National Institute of Allergy and Infectious Diseases,Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural Research