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- [11] A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencingBMC MEDICAL GENETICS, 2020, 21 (01)Zhang, Lin论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Internal Med, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Internal Med, Beijing 100026, Peoples R ChinaCao, Zheng论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Lab Med, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Internal Med, Beijing 100026, Peoples R ChinaFeng, Fan论文数: 0 引用数: 0 h-index: 0机构: Tsinghua Univ, Sch Med, Dept Basic Med Sci, Beijing 100084, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Internal Med, Beijing 100026, Peoples R ChinaXu, Ya-Nan论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Internal Med, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Internal Med, Beijing 100026, Peoples R ChinaLi, Lin论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Cent Lab, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Internal Med, Beijing 100026, Peoples R ChinaGao, Hong论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Internal Med, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Internal Med, Beijing 100026, Peoples R China
- [12] Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencingGYNECOLOGICAL ENDOCRINOLOGY, 2020, 36 (08) : 682 - 686Lee, Hae Sang论文数: 0 引用数: 0 h-index: 0机构: Ajou Univ, Dept Pediat, Sch Med, San 5, Suwon 443721, South Korea Ajou Univ, Dept Pediat, Sch Med, San 5, Suwon 443721, South KoreaJeong, Hwal Rim论文数: 0 引用数: 0 h-index: 0机构: Soonchunhyang Univ, Dept Pediat, Cheonan Hosp, Coll Med, Cheonan, South Korea Ajou Univ, Dept Pediat, Sch Med, San 5, Suwon 443721, South KoreaRho, Jung Gi论文数: 0 引用数: 0 h-index: 0机构: Ajou Univ, Dept Pediat, Sch Med, San 5, Suwon 443721, South Korea Ajou Univ, Dept Pediat, Sch Med, San 5, Suwon 443721, South KoreaKum, Chang Dae论文数: 0 引用数: 0 h-index: 0机构: Ajou Univ, Dept Pediat, Sch Med, San 5, Suwon 443721, South Korea Ajou Univ, Dept Pediat, Sch Med, San 5, Suwon 443721, South KoreaKim, Kyoungkon论文数: 0 引用数: 0 h-index: 0机构: Ajou Univ, Dept Pediat, Sch Med, San 5, Suwon 443721, South Korea Ajou Univ, Dept Pediat, Sch Med, San 5, Suwon 443721, South KoreaKim, Do Wan论文数: 0 引用数: 0 h-index: 0机构: Ajou Univ, Ajou Translat Omics Ctr, Med Ctr, Suwon, South Korea Ajou Univ, Dept Pediat, Sch Med, San 5, Suwon 443721, South Korea论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [13] Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish populationJOURNAL OF MEDICAL VIROLOGY, 2022, 94 (11) : 5225 - 5243Duman, Nilgun论文数: 0 引用数: 0 h-index: 0机构: Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, Turkey论文数: 引用数: h-index:机构:Bisgin, Atil论文数: 0 引用数: 0 h-index: 0机构: Cukurova Univ, Fac Med, Dept Med Genet, Adana, Turkey Cukurova Univ, AGENTEM Adana Genet Dis Diag & Treatment Ctr, Adana, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyBozdogan, Sevcan Tug论文数: 0 引用数: 0 h-index: 0机构: Cukurova Univ, Fac Med, Dept Med Genet, Adana, Turkey Cukurova Univ, AGENTEM Adana Genet Dis Diag & Treatment Ctr, Adana, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeySag, Sebnem Ozemri论文数: 0 引用数: 0 h-index: 0机构: Bursa Uludag Univ, Fac Med, Dept Med Genet, Bursa, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyGul, Seref论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Fac Sci, Dept Biol, Biotechnol Div, Istanbul, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyKiraz, Aslihan论文数: 0 引用数: 0 h-index: 0机构: Kayseri Educ & Res State Hosp, Dept Med Genet, Kayseri, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyBalta, Burhan论文数: 0 引用数: 0 h-index: 0机构: Kayseri Educ & Res State Hosp, Dept Med Genet, Kayseri, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyErdogan, Murat论文数: 0 引用数: 0 h-index: 0机构: Kayseri Educ & Res State Hosp, Dept Med Genet, Kayseri, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyUyanik, Bulent论文数: 0 引用数: 0 h-index: 0机构: Istanbul Bakirkoy Dr Sadi Konuk Educ & Res Hosp, Dept Med Genet, Istanbul, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyCanbek, Sezin论文数: 0 引用数: 0 h-index: 0机构: Umraniye City Hosp, Dept Med Genet, Istanbul, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyAta, Pinar论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Fac Med, Dept Med Genet, Istanbul, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyGeckinli, Bilgen Bilge论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Fac Med, Dept Med Genet, Istanbul, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyAtes, Esra Arslan论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Fac Med, Dept Med Genet, Istanbul, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, Turkey论文数: 引用数: h-index:机构:Ozdemir, Sevda Yesim论文数: 0 引用数: 0 h-index: 0机构: Uskudar Univ, Fac Med, Dept Med Genet, Istanbul, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeySezer, Ozlem论文数: 0 引用数: 0 h-index: 0机构: Samsun Educ & Res Hosp, Dept Med Genet, Samsun, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyOzgon, Gulay Oner论文数: 0 引用数: 0 h-index: 0机构: Nesiller Genet Diag Ctr, Istanbul, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyGurkan, Hakan论文数: 0 引用数: 0 h-index: 0机构: Trakya Univ, Fac Med, Dept Med Genet, Edirne, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyGuler, Kubra论文数: 0 引用数: 0 h-index: 0机构: Mikrogen Genet Diagnost Ctr, Ankara, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyBoga, Ibrahim论文数: 0 引用数: 0 h-index: 0机构: Cukurova Univ, Fac Med, Dept Med Genet, Adana, Turkey Cukurova Univ, AGENTEM Adana Genet Dis Diag & Treatment Ctr, Adana, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyKaya, Niyazi论文数: 0 引用数: 0 h-index: 0机构: Bursa Uludag Univ, Fac Med, Dept Med Genet, Bursa, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyAlemdar, Adem论文数: 0 引用数: 0 h-index: 0机构: Bursa Uludag Univ, Fac Med, Dept Med Genet, Bursa, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeySayan, Murat论文数: 0 引用数: 0 h-index: 0机构: Near East Univ, DESAM Res Inst, Nicosia, Cyprus Kocaeli Univ, PCR Unit, Educ & Res Hosp, Kocaeli, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyDundar, Munis论文数: 0 引用数: 0 h-index: 0机构: Erciyes Univ, Fac Med, Dept Med Genet, Kayseri, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyErgoren, Mahmut Cerkez论文数: 0 引用数: 0 h-index: 0机构: Near East Univ, DESAM Res Inst, Nicosia, Cyprus Near East Univ, Fac Med, Dept Med Genet, CY-99138 Nicosia, Cyprus Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, TurkeyTemel, Sehime Gulsun论文数: 0 引用数: 0 h-index: 0机构: Bursa Uludag Univ, Fac Med, Dept Med Genet, Bursa, Turkey Near East Univ, Fac Med, Dept Med Genet, CY-99138 Nicosia, Cyprus Bursa Uludag Univ, Fac Med, Dept Histol & Embryol, Bursa, Turkey Bursa Uludag Univ, Inst Hlth Sci, Dept Translat Med, Bursa, Turkey Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, Turkey
- [14] Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole-Exome Sequencing in a Patient with Delayed-Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1R206H-Specific Human Cellular and Zebrafish ModelsJOURNAL OF BONE AND MINERAL RESEARCH, 2022, 37 (11) : 2058 - 2076Wentworth, Kelly L.论文数: 0 引用数: 0 h-index: 0机构: Zuckerberg San Francisco Gen Hosp, Dept Med, Div Endocrinol & Metab, San Francisco, CA USA Zuckerberg San Francisco Gen Hosp, Dept Med, Div Endocrinol & Metab, San Francisco, CA USALalonde, Robert L.论文数: 0 引用数: 0 h-index: 0机构: Tufts Univ, Sch Dent Med, Div Craniofacial & Mol Genet, Boston, MA 02111 USA Zuckerberg San Francisco Gen Hosp, Dept Med, Div Endocrinol & Metab, San Francisco, CA USAGroppe, Jay C.论文数: 0 引用数: 0 h-index: 0机构: Texas A&M Univ, Dept Biomed Sci, Coll Dent, Dallas, TX USA Zuckerberg San Francisco Gen Hosp, Dept Med, Div Endocrinol & Metab, San Francisco, CA USABrewer, Niambi论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Orthoped Surg, Perelman Sch Med, Philadelphia, PA USA Univ Penn, Ctr Res FOP & Related Disord, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA USA Zuckerberg San Francisco Gen Hosp, Dept Med, Div Endocrinol & Metab, San Francisco, CA USAMoody, Tania论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, Program Craniofacial Biol, UCSF Eli & Edythe Broad Inst Regenerat Med, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Med, Div Endocrinol & Metab, San Francisco, CA 94143 USA Zuckerberg San Francisco Gen Hosp, Dept Med, Div Endocrinol & Metab, San Francisco, CA USAHansberry, Steven论文数: 0 引用数: 0 h-index: 0机构: San Francisco State Univ, Calif Inst, Regenerat Med Bridges Stem Cell Res Program, San Francisco, CA 94132 USA Zuckerberg San Francisco Gen Hosp, Dept Med, Div Endocrinol & Metab, San Francisco, CA USATaylor, Kimberly E.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Russell Engleman Rheumatol Res Ctr, San Francisco, CA 94143 USA Zuckerberg San Francisco Gen Hosp, Dept Med, Div Endocrinol & Metab, San Francisco, CA USAShore, Eileen M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Orthoped Surg, Perelman Sch Med, Philadelphia, PA USA Univ Penn, Ctr Res FOP & Related Disord, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA USA Zuckerberg San Francisco Gen Hosp, Dept Med, Div Endocrinol & Metab, San Francisco, CA USAKaplan, Frederick S.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Orthoped Surg, Perelman Sch Med, Philadelphia, PA USA Univ Penn, Ctr Res FOP & Related Disord, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, Dept Med, Perelman Sch Med, Philadelphia, PA 19104 USA Zuckerberg San Francisco Gen Hosp, Dept Med, Div Endocrinol & Metab, San Francisco, CA USAPignolo, Robert J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Med, Rochester, MN USA Zuckerberg San Francisco Gen Hosp, Dept Med, Div Endocrinol & Metab, San Francisco, CA USAYelick, Pamela C.论文数: 0 引用数: 0 h-index: 0机构: Tufts Univ, Sch Dent Med, Div Craniofacial & Mol Genet, Boston, MA 02111 USA Zuckerberg San Francisco Gen Hosp, Dept Med, Div Endocrinol & Metab, San Francisco, CA USAHsiao, Edward C.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, Program Craniofacial Biol, UCSF Eli & Edythe Broad Inst Regenerat Med, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Med, Div Endocrinol & Metab, San Francisco, CA 94143 USA Zuckerberg San Francisco Gen Hosp, Dept Med, Div Endocrinol & Metab, San Francisco, CA USA