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- [2] Two novel mutations in TTN of a patient with congenital myopathy: A case reportMOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (08):Jang, Joon Young论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Bundang Hosp, Dept Rehabil Med, Seongnam, South Korea Seoul Natl Univ, Coll Med, Bundang Hosp, Dept Rehabil Med, Seongnam, South KoreaPark, Yulhyun论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Bundang Hosp, Dept Rehabil Med, Seongnam, South Korea Seoul Natl Univ, Coll Med, Bundang Hosp, Dept Rehabil Med, Seongnam, South KoreaJang, Dae-Hyun论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ Korea, Dept Rehabil Med, Coll Med, Seoul, South Korea Seoul Natl Univ, Coll Med, Bundang Hosp, Dept Rehabil Med, Seongnam, South KoreaJang, Ja-Hyun论文数: 0 引用数: 0 h-index: 0机构: Green Cross Genome, Yongin, South Korea Seoul Natl Univ, Coll Med, Bundang Hosp, Dept Rehabil Med, Seongnam, South KoreaRyu, Ju Seok论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Bundang Hosp, Dept Rehabil Med, Seongnam, South Korea Seoul Natl Univ, Coll Med, Bundang Hosp, Dept Rehabil Med, Seongnam, South Korea
- [3] Two Novel Mutations in the TSH-β Subunit Gene Underlying Congenital Central Hypothyroidism.ENDOCRINE REVIEWS, 2010, 31 (03)Baquedano, M. S.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Buenos Aires, DF, ArgentinaCiaccio, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Buenos Aires, DF, ArgentinaDujovne, N.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Buenos Aires, DF, ArgentinaHerzovich, V.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Buenos Aires, DF, ArgentinaLongueira, Y.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Buenos Aires, DF, ArgentinaWarman, D. M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Buenos Aires, DF, ArgentinaRivarola, M. A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Buenos Aires, DF, ArgentinaBelgorosky, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Buenos Aires, DF, Argentina
- [4] Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidismENDOCRINE, 2014, 45 (02) : 206 - 212Cangul, Hakan论文数: 0 引用数: 0 h-index: 0机构: Bahcesehir Univ, Sch Med, Dept Med Genet, Istanbul, Turkey Bahcesehir Univ, Sch Med, Dept Med Genet, Istanbul, TurkeyBoelaert, Kristien论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Ctr Endocrinol Diabet & Metab, Birmingham, W Midlands, England Bahcesehir Univ, Sch Med, Dept Med Genet, Istanbul, TurkeyDogan, Murat论文数: 0 引用数: 0 h-index: 0机构: Yuzuncu Yil Univ, Fac Med, Div Paediat Endocrinol, Van, Turkey Bahcesehir Univ, Sch Med, Dept Med Genet, Istanbul, TurkeySaglam, Yaman论文数: 0 引用数: 0 h-index: 0机构: Med Pk Goztepe Hosp, Ctr Genet Diag, Istanbul, Turkey Bahcesehir Univ, Sch Med, Dept Med Genet, Istanbul, TurkeyKendall, Michaela论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med, Dept Child Hlth, Div Clin & Expt Sci, Southampton SO9 5NH, Hants, England Bahcesehir Univ, Sch Med, Dept Med Genet, Istanbul, TurkeyBarrett, Timothy G.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Sch Clin & Expt Med, Ctr Rare Dis & Personalised Med, Birmingham, W Midlands, England Bahcesehir Univ, Sch Med, Dept Med Genet, Istanbul, TurkeyMaher, Eamonn R.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Sch Clin, Acad Dept Med Genet, Cambridge, England Bahcesehir Univ, Sch Med, Dept Med Genet, Istanbul, Turkey
- [5] Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese FamiliesTHYROID, 2019, 29 (02) : 302 - 304论文数: 引用数: h-index:机构:Bruellman, Ryan J.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Med, 1120 NW 14th St,Room 310F, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dept Med, 1120 NW 14th St,Room 310F, Miami, FL 33136 USAEbrhim, Reham S.论文数: 0 引用数: 0 h-index: 0机构: Univ Khartoum, Dept Paediat & Child Hlth, Fac Med, Khartoum, Sudan Univ Almughtaribeen, Dept Pediat & Child Hlth, Fac Med, Khartoum, Sudan Univ Miami, Miller Sch Med, Dept Med, 1120 NW 14th St,Room 310F, Miami, FL 33136 USAAbdullah, Mohamed A.论文数: 0 引用数: 0 h-index: 0机构: Univ Khartoum, Dept Paediat & Child Hlth, Fac Med, Khartoum, Sudan Univ Miami, Miller Sch Med, Dept Med, 1120 NW 14th St,Room 310F, Miami, FL 33136 USADumitrescu, Alexandra M.论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Med, 5841 S Maryland Ave, Chicago, IL 60637 USA Univ Miami, Miller Sch Med, Dept Med, 1120 NW 14th St,Room 310F, Miami, FL 33136 USARefetoff, Samuel论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Med, 5841 S Maryland Ave, Chicago, IL 60637 USA Univ Chicago, Dept Pediat, Chicago, IL 60637 USA Univ Chicago, Dept Genet, Chicago, IL 60637 USA Univ Miami, Miller Sch Med, Dept Med, 1120 NW 14th St,Room 310F, Miami, FL 33136 USAWeiss, Roy E.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Med, 1120 NW 14th St,Room 310F, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dept Med, 1120 NW 14th St,Room 310F, Miami, FL 33136 USA
- [6] Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidismEndocrine, 2014, 45 : 206 - 212Hakan Cangul论文数: 0 引用数: 0 h-index: 0机构: Bahcesehir University School of Medicine,Department of Medical GeneticsKristien Boelaert论文数: 0 引用数: 0 h-index: 0机构: Bahcesehir University School of Medicine,Department of Medical GeneticsMurat Dogan论文数: 0 引用数: 0 h-index: 0机构: Bahcesehir University School of Medicine,Department of Medical GeneticsYaman Saglam论文数: 0 引用数: 0 h-index: 0机构: Bahcesehir University School of Medicine,Department of Medical GeneticsMichaela Kendall论文数: 0 引用数: 0 h-index: 0机构: Bahcesehir University School of Medicine,Department of Medical GeneticsTimothy G. Barrett论文数: 0 引用数: 0 h-index: 0机构: Bahcesehir University School of Medicine,Department of Medical GeneticsEamonn R. Maher论文数: 0 引用数: 0 h-index: 0机构: Bahcesehir University School of Medicine,Department of Medical Genetics
- [7] Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidismCLINICAL ENDOCRINOLOGY, 2010, 73 (05) : 671 - 677Cangul, Hakan论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England Uludag Univ, Sch Med, Dept Med Genet, Bursa, Turkey Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandMorgan, Neil V.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandForman, Julia R.论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, Struct Bioinformat Unit, Paris, France Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandSaglam, Halil论文数: 0 引用数: 0 h-index: 0机构: Uludag Univ, Sch Med, Dept Paediat Endocrinol, Bursa, Turkey Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandAycan, Zehra论文数: 0 引用数: 0 h-index: 0机构: Children Res Hosp, Div Paediat Endocrinol, Ankara, Turkey Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandYakut, Tahsin论文数: 0 引用数: 0 h-index: 0机构: Uludag Univ, Sch Med, Dept Med Genet, Bursa, Turkey Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandGulten, Tuna论文数: 0 引用数: 0 h-index: 0机构: Uludag Univ, Sch Med, Dept Med Genet, Bursa, Turkey Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandTarim, Omer论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandBober, Ece论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Div Endocrinol, Dept Paediat, Fac Med, Izmir, Turkey Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandCesur, Yasar论文数: 0 引用数: 0 h-index: 0机构: Yuzuncu Yil Univ, Div Paediat Endocrinol, Fac Med, Van, Turkey Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandKirby, Gail A.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandPasha, Shanaz论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandKarkucak, Mutlu论文数: 0 引用数: 0 h-index: 0机构: Uludag Univ, Sch Med, Dept Med Genet, Bursa, Turkey Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandEren, Erdal论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandCetinkaya, Semra论文数: 0 引用数: 0 h-index: 0机构: Children Res Hosp, Div Paediat Endocrinol, Ankara, Turkey Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandBas, Veysel论文数: 0 引用数: 0 h-index: 0机构: Children Res Hosp, Div Paediat Endocrinol, Ankara, Turkey Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandDemir, Korcan论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Div Endocrinol, Dept Paediat, Fac Med, Izmir, Turkey Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandYuca, Sevil A.论文数: 0 引用数: 0 h-index: 0机构: Yuzuncu Yil Univ, Div Paediat Endocrinol, Fac Med, Van, Turkey Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandMeyer, Esther论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandKendall, Michaela论文数: 0 引用数: 0 h-index: 0机构: Uludag Univ, Sch Med, Dept Publ Hlth, Bursa, Turkey Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandHogler, Wolfgang论文数: 0 引用数: 0 h-index: 0机构: Birmingham Childrens Hosp, Dept Endocrinol & Diabet, Birmingham, W Midlands, England Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandBarrett, Timothy G.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England Birmingham Childrens Hosp, Dept Endocrinol & Diabet, Birmingham, W Midlands, England Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, EnglandMaher, Eamonn R.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Dept Med & Mol Genet, Sch Clin & Expt Med, Birmingham B15 2TT, W Midlands, England
- [8] Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital HypothyroidismFRONTIERS IN ENDOCRINOLOGY, 2021, 12Zhang, Cao-Xu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R ChinaZhang, Jun-Xiu论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Inst Bozhou, Dept Endocrinol, Bozhou, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R ChinaYang, Liu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R ChinaZhang, Chang-Run论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R ChinaCheng, Feng论文数: 0 引用数: 0 h-index: 0机构: Fujian Prov Matern & Childrens Hosp, Fujian Childrens Hosp, Dept Lab Med, Fuzhou, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R ChinaZhang, Rui-Jia论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R ChinaFang, Ya论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R ChinaWang, Zheng论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R ChinaWu, Feng-Yao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R ChinaLi, Pei-Zhang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R ChinaLiang, Jun论文数: 0 引用数: 0 h-index: 0机构: Xuzhou Med Coll, Dept Endocrinol, Cent Hosp Xuzhou, Xuzhou, Jiangsu, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R ChinaLi, Rui论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R ChinaSong, Huai-Dong论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Core Lab Med Ctr Clin Res, Dept Mol Diagnost & Endocrinol,Sch Med, Shanghai, Peoples R China
- [9] Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidismEUROPEAN JOURNAL OF ENDOCRINOLOGY, 2001, 145 (01) : 19 - 24Ambrugger, P论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, CVK, Otto Heubner Zentrum Kinder & Jugendmed, D-13353 Berlin, GermanyStoeva, I论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, CVK, Otto Heubner Zentrum Kinder & Jugendmed, D-13353 Berlin, GermanyBiebermann, H论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, CVK, Otto Heubner Zentrum Kinder & Jugendmed, D-13353 Berlin, GermanyTorresani, T论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, CVK, Otto Heubner Zentrum Kinder & Jugendmed, D-13353 Berlin, GermanyLeitner, C论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, CVK, Otto Heubner Zentrum Kinder & Jugendmed, D-13353 Berlin, GermanyGrüters, A论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, CVK, Otto Heubner Zentrum Kinder & Jugendmed, D-13353 Berlin, Germany
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