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- [22] 17q12 microdeletion syndrome as a cause of chondrocalcinosisSWISS MEDICAL WEEKLY, 2019, : 2S - 2SReygaerts, T.论文数: 0 引用数: 0 h-index: 0机构: HFR Fribourg, Dept Rheumatol, Fribourg, Switzerland HFR Fribourg, Dept Rheumatol, Fribourg, SwitzerlandAhmanna-Chakir, F.论文数: 0 引用数: 0 h-index: 0机构: HFR Fribourg, Dept Rheumatol, Fribourg, Switzerland HFR Fribourg, Dept Rheumatol, Fribourg, SwitzerlandDudler, J.论文数: 0 引用数: 0 h-index: 0机构: HFR Fribourg, Dept Rheumatol, Fribourg, Switzerland HFR Fribourg, Dept Rheumatol, Fribourg, Switzerland
- [23] MODY5 and Serous Ovarian Carcinoma in 17q12 Recurrent Deletion SyndromeDIABETES, 2019, 68Hollar, Laura论文数: 0 引用数: 0 h-index: 0Salam, Maamoun论文数: 0 引用数: 0 h-index: 0Thaker, Premal H.论文数: 0 引用数: 0 h-index: 0Mcgill, Janet B.论文数: 0 引用数: 0 h-index: 0
- [24] Accurate diagnosis and heterogeneity analysis of a 17q12 deletion syndrome family with adulthood diabetes onset and complex clinical phenotypesENDOCRINE, 2021, 73 (01) : 37 - 46Wu, Hui-Xuan论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, XiangYa Hosp 2, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China Cent South Univ, XiangYa Hosp 2, Dept Endocrinol & Metab, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China Cent South Univ, XiangYa Hosp 2, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R ChinaLi, Long论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, XiangYa Hosp 2, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China Cent South Univ, XiangYa Hosp 2, Dept Endocrinol & Metab, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China Cent South Univ, XiangYa Hosp 2, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R ChinaZhang, Hong论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, XiangYa Hosp 2, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China Cent South Univ, XiangYa Hosp 2, Dept Endocrinol & Metab, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China Cent South Univ, XiangYa Hosp 2, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R ChinaTang, Jun论文数: 0 引用数: 0 h-index: 0机构: Wuhan Univ, Zhongnan Hosp, Dept Endocrinol, Wuhan 430071, Hubei, Peoples R China Cent South Univ, XiangYa Hosp 2, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R ChinaZhang, Mei-Biao论文数: 0 引用数: 0 h-index: 0机构: First Peoples Hosp Huaihua, Dept Endocrinol & Metab, Huaihua 418000, Hunan, Peoples R China Cent South Univ, XiangYa Hosp 2, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R ChinaTang, Hao-Neng论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, XiangYa Hosp 2, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China Cent South Univ, XiangYa Hosp 2, Dept Endocrinol & Metab, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China Cent South Univ, XiangYa Hosp 2, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R ChinaGuo, Yue论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, XiangYa Hosp 2, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China Cent South Univ, XiangYa Hosp 2, Dept Endocrinol & Metab, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China Cent South Univ, XiangYa Hosp 2, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R ChinaZhou, Zhi-Guang论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, XiangYa Hosp 2, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China Cent South Univ, XiangYa Hosp 2, Dept Endocrinol & Metab, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China Cent South Univ, XiangYa Hosp 2, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R ChinaZhou, Hou-De论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, XiangYa Hosp 2, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China Cent South Univ, XiangYa Hosp 2, Dept Endocrinol & Metab, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China Cent South Univ, XiangYa Hosp 2, Natl Clin Res Ctr Metab Dis, Hunan Prov Key Lab Metab Bone Dis, 139 Renmin Middle Rd, Changsha 410011, Hunan, Peoples R China
- [25] Accurate diagnosis and heterogeneity analysis of a 17q12 deletion syndrome family with adulthood diabetes onset and complex clinical phenotypesEndocrine, 2021, 73 : 37 - 46Hui-Xuan Wu论文数: 0 引用数: 0 h-index: 0机构: the Second XiangYa Hospital of Central South University,National Clinical Research Center for Metabolic Diseases, Hunan Provincial Key Laboratory For Metabolic Bone Diseases, and Department of Endocrinology and MetabolismLong Li论文数: 0 引用数: 0 h-index: 0机构: the Second XiangYa Hospital of Central South University,National Clinical Research Center for Metabolic Diseases, Hunan Provincial Key Laboratory For Metabolic Bone Diseases, and Department of Endocrinology and MetabolismHong Zhang论文数: 0 引用数: 0 h-index: 0机构: the Second XiangYa Hospital of Central South University,National Clinical Research Center for Metabolic Diseases, Hunan Provincial Key Laboratory For Metabolic Bone Diseases, and Department of Endocrinology and MetabolismJun Tang论文数: 0 引用数: 0 h-index: 0机构: the Second XiangYa Hospital of Central South University,National Clinical Research Center for Metabolic Diseases, Hunan Provincial Key Laboratory For Metabolic Bone Diseases, and Department of Endocrinology and MetabolismMei-Biao Zhang论文数: 0 引用数: 0 h-index: 0机构: the Second XiangYa Hospital of Central South University,National Clinical Research Center for Metabolic Diseases, Hunan Provincial Key Laboratory For Metabolic Bone Diseases, and Department of Endocrinology and MetabolismHao-Neng Tang论文数: 0 引用数: 0 h-index: 0机构: the Second XiangYa Hospital of Central South University,National Clinical Research Center for Metabolic Diseases, Hunan Provincial Key Laboratory For Metabolic Bone Diseases, and Department of Endocrinology and MetabolismYue Guo论文数: 0 引用数: 0 h-index: 0机构: the Second XiangYa Hospital of Central South University,National Clinical Research Center for Metabolic Diseases, Hunan Provincial Key Laboratory For Metabolic Bone Diseases, and Department of Endocrinology and MetabolismZhi-Guang Zhou论文数: 0 引用数: 0 h-index: 0机构: the Second XiangYa Hospital of Central South University,National Clinical Research Center for Metabolic Diseases, Hunan Provincial Key Laboratory For Metabolic Bone Diseases, and Department of Endocrinology and MetabolismHou-De Zhou论文数: 0 引用数: 0 h-index: 0机构: the Second XiangYa Hospital of Central South University,National Clinical Research Center for Metabolic Diseases, Hunan Provincial Key Laboratory For Metabolic Bone Diseases, and Department of Endocrinology and Metabolism
- [26] Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalitiesMOLECULAR CYTOGENETICS, 2019, 12 (1)Wan, Shanning论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, AFMU, 127 ChangLe West Rd, Xian 710032, Shaanxi, Peoples R China Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, AFMU, 127 ChangLe West Rd, Xian 710032, Shaanxi, Peoples R ChinaZheng, Yunyun论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, AFMU, 127 ChangLe West Rd, Xian 710032, Shaanxi, Peoples R China Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, AFMU, 127 ChangLe West Rd, Xian 710032, Shaanxi, Peoples R ChinaDang, Yinghui论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, AFMU, 127 ChangLe West Rd, Xian 710032, Shaanxi, Peoples R China Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, AFMU, 127 ChangLe West Rd, Xian 710032, Shaanxi, Peoples R ChinaSong, Tingting论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, AFMU, 127 ChangLe West Rd, Xian 710032, Shaanxi, Peoples R China Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, AFMU, 127 ChangLe West Rd, Xian 710032, Shaanxi, Peoples R ChinaChen, Biliang论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, AFMU, 127 ChangLe West Rd, Xian 710032, Shaanxi, Peoples R China Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, AFMU, 127 ChangLe West Rd, Xian 710032, Shaanxi, Peoples R ChinaZhang, Jianfang论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, AFMU, 127 ChangLe West Rd, Xian 710032, Shaanxi, Peoples R China Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, AFMU, 127 ChangLe West Rd, Xian 710032, Shaanxi, Peoples R China
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Belgium Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USAYuen, Amy Lawson论文数: 0 引用数: 0 h-index: 0机构: Multicare Hlth Syst, Genom Inst, Tacoma, WA USA Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USASkinner, Cindy论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USAFailla, Pinella论文数: 0 引用数: 0 h-index: 0机构: IRCCS Assoc Oasi Maria Santissima, Troina, Italy Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USAAlberti, Antonino论文数: 0 引用数: 0 h-index: 0机构: IRCCS Assoc Oasi Maria Santissima, Troina, Italy Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USAAvola, Emanuela论文数: 0 引用数: 0 h-index: 0机构: IRCCS Assoc Oasi Maria Santissima, Troina, Italy Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USAFichera, Marco论文数: 0 引用数: 0 h-index: 0机构: IRCCS Assoc Oasi Maria Santissima, Troina, Italy Univ Catania, Med Genet, Catania, Italy Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USAKibaek, Maria论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, DK-5000 Odense, Denmark Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USADigilio, Maria C.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, Dept Med Genet, Rome, Italy Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USAHannibal, Mark C.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Div Pediat Genet Metab & Genom Med, Ann Arbor, MI 48109 USA Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USAden Hollander, Nicolette S.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USABizzarri, Veronica论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, I-53100 Siena, Italy Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA论文数: 引用数: h-index:机构:Mencarelli, Maria Antonietta论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, I-53100 Siena, Italy Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USAFitzgerald, Tomas论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Cambridge, England Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USAPiazzolla, Serena论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Cambridge, England Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USAvan Oudenhove, Elke论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Cambridge, England Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USARomano, Corrado论文数: 0 引用数: 0 h-index: 0机构: IRCCS Assoc Oasi Maria Santissima, Troina, Italy Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USASchwartz, Charles论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, JC Self Res Inst, Greenwood, SC 29646 USA Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USAEichler, Evan E.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USASlavotinek, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USAEscobar, Luis论文数: 0 引用数: 0 h-index: 0机构: Payton Manning Childrens Hosp, Indianapolis, IN USA Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USARajan, Diana论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Cambridge, England Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USACrolla, John论文数: 0 引用数: 0 h-index: 0机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USACarter, Nigel论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Cambridge, England Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USAHodge, Jennelle C.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA Cedars Sinai Med Ctr, Dept Pathol & Lab Med, Los Angeles, CA 90048 USA Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USAMefford, Heather C.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Seattle Childrens Hosp, Seattle, WA USA Mayo Clin, 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