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- [42] A gain of function variant in PIEZO1 (E756del) and sickle cell diseaseHAEMATOLOGICA, 2019, 104 (03) : E91 - E93Rooks, Helen论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, Red Cell Biol Grp, Denmark Hill, London, England Kings Coll Hosp London, Red Cell Biol Grp, Denmark Hill, London, EnglandBrewin, John论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, Red Cell Biol Grp, Denmark Hill, London, England Kings Coll Hosp London, Red Cell Biol Grp, Denmark Hill, London, EnglandGardner, Kate论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, Red Cell Biol Grp, Denmark Hill, London, England Kings Coll Hosp London, Red Cell Biol Grp, Denmark Hill, London, EnglandChakravorty, Subarna论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, Red Cell Biol Grp, Denmark Hill, London, England Kings Coll Hosp London, Red Cell Biol Grp, Denmark Hill, London, EnglandMenzel, Stephan论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, Red Cell Biol Grp, Denmark Hill, London, England Kings Coll Hosp London, Red Cell Biol Grp, Denmark Hill, London, EnglandHannemann, Anke论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Vet Med, Cambridge, England Kings Coll Hosp London, Red Cell Biol Grp, Denmark Hill, London, EnglandGibson, John论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Vet Med, Cambridge, England Kings Coll Hosp London, Red Cell Biol Grp, Denmark Hill, London, EnglandRees, David C.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, Red Cell Biol Grp, Denmark Hill, London, England Kings Coll Hosp London, Red Cell Biol Grp, Denmark Hill, London, England
- [43] PIEZO1 gain-of-function gene variant is associated with elevated tendon stiffness in humansJOURNAL OF APPLIED PHYSIOLOGY, 2023, 135 (01) : 165 - 173Goetschi, Tobias论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Balgrist Univ Hosp, Dept Orthopaed, Lab Orthopaed Biomech, Zurich, Switzerland Swiss Fed Inst Technol, Inst Biomech, Zurich, Switzerland Univ Zurich, Balgrist Univ Hosp, Dept Orthopaed, Lab Orthopaed Biomech, Zurich, SwitzerlandHeld, Victoria论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Biomech, Zurich, Switzerland Univ Zurich, Balgrist Univ Hosp, Dept Orthopaed, Sports Med Res Grp, Zurich, Switzerland Univ Zurich, Balgrist Univ Hosp, Dept Orthopaed, Lab Orthopaed Biomech, Zurich, SwitzerlandKlucker, Gianna论文数: 0 引用数: 0 h-index: 0机构: Swiss Fed Inst Technol, Inst Biomech, Zurich, Switzerland Univ Zurich, Balgrist Univ Hosp, Dept Orthopaed, Sports Med Res Grp, Zurich, Switzerland Univ Zurich, Balgrist Univ Hosp, Dept Orthopaed, Lab Orthopaed Biomech, Zurich, SwitzerlandNiederoest, Barbara论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Balgrist Univ Hosp, Dept Orthopaed, Lab Orthopaed Biomech, Zurich, Switzerland Swiss Fed Inst Technol, Inst Biomech, Zurich, Switzerland Univ Zurich, Balgrist Univ Hosp, Dept Orthopaed, Lab Orthopaed Biomech, Zurich, SwitzerlandAagaard, Per论文数: 0 引用数: 0 h-index: 0机构: Univ Southern Denmark, Dept Sports Sci & Clin Biomech, Odense, Denmark Univ Zurich, Balgrist Univ Hosp, Dept Orthopaed, Lab Orthopaed Biomech, Zurich, SwitzerlandSpoerri, Joerg论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Balgrist Univ Hosp, Dept Orthopaed, Sports Med Res Grp, Zurich, Switzerland Univ Zurich, Balgrist Univ Hosp, Univ Ctr Prevent & Sports Med, Dept Orthopaed, Zurich, Switzerland Univ Zurich, Balgrist Univ Hosp, Dept Orthopaed, Lab Orthopaed Biomech, Zurich, SwitzerlandPassini, Fabian S.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Balgrist Univ Hosp, Dept Orthopaed, Lab Orthopaed Biomech, Zurich, Switzerland Swiss Fed Inst Technol, Inst Biomech, Zurich, Switzerland Univ Zurich, Balgrist Univ Hosp, Dept Orthopaed, Lab Orthopaed Biomech, Zurich, SwitzerlandSnedeker, Jess G.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Balgrist Univ Hosp, Dept Orthopaed, Lab Orthopaed Biomech, Zurich, Switzerland Swiss Fed Inst Technol, Inst Biomech, Zurich, Switzerland Univ Zurich, Balgrist Univ Hosp, Dept Orthopaed, Lab Orthopaed Biomech, Zurich, Switzerland
- [44] Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosisHuman Genome Variation, 10Erina Nakahara论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingKeiko Shimojima Yamamoto论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingHiromi Ogura论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingTakako Aoki论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingTaiju Utsugisawa论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingKenko Azuma论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingHiroyuki Akagawa论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingKenichiro Watanabe论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingMichiko Muraoka论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingFumihiko Nakamura论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingMichi Kamei论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingKoji Tatebayashi论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingJun Shinozuka论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingTakahisa Yamane论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingMakoto Hibino论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingYoshiya Katsura论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingSonoko Nakano-Akamatsu论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingNorimitsu Kadowaki论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingYoshiro Maru论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingEtsuro Ito论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingShouichi Ohga论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingHiroshi Yagasaki论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingIchiro Morioka论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingToshiyuki Yamamoto论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell ProcessingHitoshi Kanno论文数: 0 引用数: 0 h-index: 0机构: Tokyo Women’s Medical University,Department of Transfusion Medicine and Cell Processing
- [45] Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosisHUMAN GENOME VARIATION, 2023, 10 (01)Nakahara, Erina论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, Japan Nihon Univ, Dept Pediat & Child Hlth, Sch Med, Tokyo, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanYamamoto, Keiko Shimojima论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, Japan Tokyo Womens Med Univ, Inst Comprehens Med Sci, Tokyo, Japan Tokyo Womens Med Univ, Inst Med Genet, Tokyo, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanOgura, Hiromi论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanAoki, Takako论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanUtsugisawa, Taiju论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanAzuma, Kenko论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Inst Comprehens Med Sci, Tokyo, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanAkagawa, Hiroyuki论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Inst Comprehens Med Sci, Tokyo, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanWatanabe, Kenichiro论文数: 0 引用数: 0 h-index: 0机构: Shizuoka Childrens Hosp, Dept Hematol & Oncol, Shizuoka, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanMuraoka, Michiko论文数: 0 引用数: 0 h-index: 0机构: Fukuyama Med Ctr, Dept Pediat, Okayama, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanNakamura, Fumihiko论文数: 0 引用数: 0 h-index: 0机构: Nara Prefecture Gen Med Ctr, Dept Lab Med, Nara, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanKamei, Michi论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Dept Pediat & Neonatol, Grad Sch Med Sci, Nagoya, Aichi, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanTatebayashi, Koji论文数: 0 引用数: 0 h-index: 0机构: Gifu Prefectural Gen Med Ctr, Dept Neonatol, Gifu, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanShinozuka, Jun论文数: 0 引用数: 0 h-index: 0机构: Uji Tokushukai Med Ctr, Dept Pediat, Kyoto, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanYamane, Takahisa论文数: 0 引用数: 0 h-index: 0机构: Osaka City Gen Hosp, Dept Hematol, Osaka, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanHibino, Makoto论文数: 0 引用数: 0 h-index: 0机构: Shonan Fujisawa Tokushukai Hosp, Dept Resp Med, Fujisawa, Kanagawa, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanKatsura, Yoshiya论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med Univ Ibaraki Med Ctr, Dept Metab & Endocrinol, Mito, Ibaraki, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanNakano-Akamatsu, Sonoko论文数: 0 引用数: 0 h-index: 0机构: Omihachiman Community Med Ctr, Dept Hematol, Omihachiman, Shiga, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, Japan论文数: 引用数: h-index:机构:Maru, Yoshiro论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Dept Pharmacol, Tokyo, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanIto, Etsuro论文数: 0 引用数: 0 h-index: 0机构: Hirosaki Univ, Dept Pediat, Grad Sch Med, Aomori, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, JapanOhga, Shouichi论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Dept Pediat, Grad Sch Med Sci, Fukuoka, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, Japan论文数: 引用数: h-index:机构:Morioka, Ichiro论文数: 0 引用数: 0 h-index: 0机构: Nihon Univ, Dept Pediat & Child Hlth, Sch Med, Tokyo, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, Japan论文数: 引用数: h-index:机构:Kanno, Hitoshi论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, Japan Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, Japan
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- [48] Identification of BCAR1 as a novel candidate gene for hydrops fetalis and lower limb lymphedemaEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1391 - 1391Kemper, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyHaegerling, Rene论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany Berlin Inst Hlth BIH, BIH Ctr Regenerat Therapies, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany
- [49] A novel homozygous frameshift variant in the MCPH1 gene causes primary microcephaly in a consanguineous Saudi familyGenes & Genomics, 2017, 39 : 1317 - 1323Muhammad Imran Naseer论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz University,Center of Excellence in Genomic Medicine Research (CEGMR)Mahmood Rasool论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz University,Center of Excellence in Genomic Medicine Research (CEGMR)Osama Yousef Muthaffar论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz University,Center of Excellence in Genomic Medicine Research (CEGMR)Abdulrahman J. Sabbagh论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz University,Center of Excellence in Genomic Medicine Research (CEGMR)Adeel G. Chaudhary论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz University,Center of Excellence in Genomic Medicine Research (CEGMR)Mohammad H. Al-Qahtani论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz University,Center of Excellence in Genomic Medicine Research (CEGMR)
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