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- [1] Distal myopathy caused by homozygous missense mutations in the nebulin geneBRAIN, 2007, 130 : 1465 - 1476Wallgren-Pettersson, Carina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandLehtokari, Vilma-Lotta论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandKalimo, Hannu论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandPaetau, Anders论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandNuutinen, Elina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandHackman, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandSewry, Caroline论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandPelin, Katarina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, FinlandUdd, Bjarne论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki, Finland
- [2] Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish familyNEUROMUSCULAR DISORDERS, 2011, 21 (08) : 551 - 555Palmio, Johanna论文数: 0 引用数: 0 h-index: 0机构: Tampere Univ Hosp, Neuromuscular Res Unit, Dept Neurol, Tampere 33014, Finland Univ Tampere, Tampere 33014, Finland Tampere Univ Hosp, Neuromuscular Res Unit, Dept Neurol, Tampere 33014, FinlandSandell, Satu论文数: 0 引用数: 0 h-index: 0机构: Tampere Univ Hosp, Neuromuscular Res Unit, Dept Neurol, Tampere 33014, Finland Univ Tampere, Tampere 33014, Finland Seinajoki Cent Hosp, Dept Neurol, Seinajoki, Finland Tampere Univ Hosp, Neuromuscular Res Unit, Dept Neurol, Tampere 33014, FinlandSuominen, Tiina论文数: 0 引用数: 0 h-index: 0机构: Tampere Univ Hosp, Neuromuscular Res Unit, Dept Neurol, Tampere 33014, Finland Univ Tampere, Tampere 33014, Finland Tampere Univ Hosp, Neuromuscular Res Unit, Dept Neurol, Tampere 33014, FinlandPenttila, Sini论文数: 0 引用数: 0 h-index: 0机构: Tampere Univ Hosp, Neuromuscular Res Unit, Dept Neurol, Tampere 33014, Finland Univ Tampere, Tampere 33014, Finland Tampere Univ Hosp, Neuromuscular Res Unit, Dept Neurol, Tampere 33014, FinlandRaheem, Olayinka论文数: 0 引用数: 0 h-index: 0机构: Tampere Univ Hosp, Neuromuscular Res Unit, Dept Neurol, Tampere 33014, Finland Univ Tampere, Tampere 33014, Finland Tampere Univ Hosp, Neuromuscular Res Unit, Dept Neurol, Tampere 33014, FinlandHackman, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Folkhalsan Inst Genet, FIN-00014 Helsinki, Finland Univ Helsinki, Dept Med Genet, Haartman Inst, FIN-00014 Helsinki, Finland Tampere Univ Hosp, Neuromuscular Res Unit, Dept Neurol, Tampere 33014, Finland论文数: 引用数: h-index:机构:Haapasalo, Hannu论文数: 0 引用数: 0 h-index: 0机构: Tampere Univ Hosp, Dept Pathol, Ctr Lab Med, Tampere 33014, Finland Tampere Univ Hosp, Neuromuscular Res Unit, Dept Neurol, Tampere 33014, FinlandUdd, Bjarne论文数: 0 引用数: 0 h-index: 0机构: Tampere Univ Hosp, Neuromuscular Res Unit, Dept Neurol, Tampere 33014, Finland Univ Tampere, Tampere 33014, Finland Univ Helsinki, Folkhalsan Inst Genet, FIN-00014 Helsinki, Finland Univ Helsinki, Dept Med Genet, Haartman Inst, FIN-00014 Helsinki, Finland Vaasa Cent Hosp, Vaasa, Finland Tampere Univ Hosp, Neuromuscular Res Unit, Dept Neurol, Tampere 33014, Finland
- [3] Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathyNEUROMUSCULAR DISORDERS, 2011, 21 (08) : 556 - 562Lehtokari, Vilma-Lotta论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Folkhalsan Inst Genet, Haartman Inst, Helsinki, Finland Univ Helsinki, Dept Med Genet, Haartman Inst, Helsinki, Finland Univ Helsinki, Folkhalsan Inst Genet, Haartman Inst, Helsinki, FinlandPelin, Katarina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Biosci, Div Genet, Helsinki, Finland Univ Helsinki, Folkhalsan Inst Genet, Haartman Inst, Helsinki, FinlandHerczegfalvi, Agnes论文数: 0 引用数: 0 h-index: 0机构: Heim Pal Hosp, Dept Paediat Neurol, Budapest, Hungary Univ Helsinki, Folkhalsan Inst Genet, Haartman Inst, Helsinki, FinlandKarcagi, Veronika论文数: 0 引用数: 0 h-index: 0机构: NIEH, Dept Mol Genet & Diagnost, Budapest, Hungary Univ Helsinki, Folkhalsan Inst Genet, Haartman Inst, Helsinki, FinlandPouget, Jean论文数: 0 引用数: 0 h-index: 0机构: Hop La Timone, Reference Ctr Neuromuscular Disorders & ALS, Marseille, France Univ Helsinki, Folkhalsan Inst Genet, Haartman Inst, Helsinki, FinlandFranques, Jerome论文数: 0 引用数: 0 h-index: 0机构: Hop La Timone, Reference Ctr Neuromuscular Disorders & ALS, Marseille, France Univ Helsinki, Folkhalsan Inst Genet, Haartman Inst, Helsinki, FinlandPellissier, Jean Francois论文数: 0 引用数: 0 h-index: 0机构: Hop La Timone, Serv Anat Pathol & Neuropathol, Marseille, France Univ Helsinki, Folkhalsan Inst Genet, Haartman Inst, Helsinki, FinlandFigarella-Branger, Dominique论文数: 0 引用数: 0 h-index: 0机构: Hop La Timone, Serv Anat Pathol & Neuropathol, Marseille, France Univ Helsinki, Folkhalsan Inst Genet, Haartman Inst, Helsinki, Finlandvon der Hagen, Maja论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Univ Childrens Hosp, Dresden, Germany Univ Helsinki, Folkhalsan Inst Genet, Haartman Inst, Helsinki, Finland论文数: 引用数: h-index:机构:Schoser, Benedikt论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany Univ Helsinki, Folkhalsan Inst Genet, Haartman Inst, Helsinki, FinlandLochmueller, Hanns论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Univ Helsinki, Folkhalsan Inst Genet, Haartman Inst, Helsinki, FinlandWallgren-Pettersson, Carina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Folkhalsan Inst Genet, Haartman Inst, Helsinki, Finland Univ Helsinki, Dept Med Genet, Haartman Inst, Helsinki, Finland Univ Helsinki, Folkhalsan Inst Genet, Haartman Inst, Helsinki, Finland
- [4] ABCD syndrome is caused by a homozygous mutation in the EDNRB geneAMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 108 (03): : 223 - 225Verheij, JBGM论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Dept Med Genet, NL-9713 AW Groningen, NetherlandsKunze, J论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Dept Med Genet, NL-9713 AW Groningen, NetherlandsOsinga, J论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Dept Med Genet, NL-9713 AW Groningen, Netherlandsvan Essen, AJ论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Dept Med Genet, NL-9713 AW Groningen, NetherlandsHofstra, RMW论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Dept Med Genet, NL-9713 AW Groningen, Netherlands
- [5] HOMOZYGOUS MUTATION IN HSPB1 CAUSING DISTAL VACUOLAR MYOPATHY AND MOTOR NEUROPATHYNEUROLOGY-GENETICS, 2017, 3 (04)Bugiardini, Enrico论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, England UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, EnglandRossor, Alexander M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, England UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, EnglandLynch, David S.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, EnglandSwash, Michael论文数: 0 引用数: 0 h-index: 0机构: Royal London Hosp, Dept Neurol, London, England UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, EnglandPittman, Alan M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, EnglandBlake, Julian C.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, England Norfolk & Norwich Univ Hosp, Dept Clin Neurophysiol, London, England UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, EnglandHanna, Michael G.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, England UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, EnglandHolton, Janice L.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, England UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, Div Neuropathol, London, England UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, EnglandReilly, Mary M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, England UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, EnglandMatthews, Emma论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, England UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, England
- [6] A founder mutation in the titin gene is a common cause of myofibrillar myopathy with early respiratory failureNEUROMUSCULAR DISORDERS, 2013, 23 (9-10) : 820 - 820Pfeffer, G.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandBarresi, R.论文数: 0 引用数: 0 h-index: 0机构: NSCT Diagnost & Advisory Serv Rare Neuromuscular, Muscle Immunoanal Unit, Newcastle Upon Tyne, Tyne & Wear, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandWilson, I. J.论文数: 0 引用数: 0 h-index: 0机构: Int Ctr Life, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandHardy, S. A.论文数: 0 引用数: 0 h-index: 0机构: Int Ctr Life, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandGriffin, H.论文数: 0 引用数: 0 h-index: 0机构: Int Ctr Life, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandHudson, J.论文数: 0 引用数: 0 h-index: 0机构: Int Ctr Life, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandElliott, H. R.论文数: 0 引用数: 0 h-index: 0机构: Int Ctr Life, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandRamesh, A. V.论文数: 0 引用数: 0 h-index: 0机构: Int Ctr Life, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandRadunovic, A.论文数: 0 引用数: 0 h-index: 0机构: Royal London Hosp, London E1 1BB, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandWiner, J.论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Hosp, Birmingham B15 2TH, W Midlands, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandVaidya, S.论文数: 0 引用数: 0 h-index: 0机构: Royal London Hosp, London E1 1BB, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandRaman, A.论文数: 0 引用数: 0 h-index: 0机构: Hull Royal Infirm, Kingston Upon Hull HU3 2JZ, N Humberside, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandBusby, M.论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds, W Yorkshire, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandFarrugia, M. E.论文数: 0 引用数: 0 h-index: 0机构: So Gen Hosp, Inst Neurol Sci, Glasgow G51 4TF, Lanark, Scotland Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandMing, A.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandEverett, C.论文数: 0 引用数: 0 h-index: 0机构: Royal London Hosp, London E1 1BB, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandEmsley, H. C. A.论文数: 0 引用数: 0 h-index: 0机构: Royal Preston Hosp, Dept Neurol, Preston, Lancs, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandHorvath, R.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandStraub, V.论文数: 0 引用数: 0 h-index: 0机构: Int Ctr Life, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandBushby, K.论文数: 0 引用数: 0 h-index: 0机构: Int Ctr Life, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandLochmuller, H.论文数: 0 引用数: 0 h-index: 0机构: Int Ctr Life, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandChinnery, P.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandSarkozy, A.论文数: 0 引用数: 0 h-index: 0机构: Int Ctr Life, Inst Med Genet, Newcastle Upon Tyne, Tyne & Wear, England Royal Victoria Infirm, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England
- [7] Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin geneEUROPEAN JOURNAL OF PEDIATRICS, 2013, 172 (07) : 959 - 964论文数: 引用数: h-index:机构:De Marco, Giuseppina论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, Dipartimento Med Clin & Sperimentale, Sez Endocrinol, Azienda Osped Univ Pisana, I-56124 Pisa, Italy Univ Pisa, Dipartimento Med Clin & Sperimentale, Sez Endocrinol, Azienda Osped Univ Pisana, I-56124 Pisa, ItalyDi Cosmo, Caterina论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, Dipartimento Med Clin & Sperimentale, Sez Endocrinol, Azienda Osped Univ Pisana, I-56124 Pisa, Italy Univ Pisa, Dipartimento Med Clin & Sperimentale, Sez Endocrinol, Azienda Osped Univ Pisana, I-56124 Pisa, ItalyFerrarini, Eleonora论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, Dipartimento Med Clin & Sperimentale, Sez Endocrinol, Azienda Osped Univ Pisana, I-56124 Pisa, Italy Univ Pisa, Dipartimento Med Clin & Sperimentale, Sez Endocrinol, Azienda Osped Univ Pisana, I-56124 Pisa, ItalyMontanelli, Lucia论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, Dipartimento Med Clin & Sperimentale, Sez Endocrinol, Azienda Osped Univ Pisana, I-56124 Pisa, Italy Univ Pisa, Dipartimento Med Clin & Sperimentale, Sez Endocrinol, Azienda Osped Univ Pisana, I-56124 Pisa, ItalyBagattini, Brunella论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, Dipartimento Med Clin & Sperimentale, Sez Endocrinol, Azienda Osped Univ Pisana, I-56124 Pisa, Italy Univ Pisa, Dipartimento Med Clin & Sperimentale, Sez Endocrinol, Azienda Osped Univ Pisana, I-56124 Pisa, ItalyVitti, Paolo论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, Dipartimento Med Clin & Sperimentale, Sez Endocrinol, Azienda Osped Univ Pisana, I-56124 Pisa, Italy Univ Pisa, Dipartimento Med Clin & Sperimentale, Sez Endocrinol, Azienda Osped Univ Pisana, I-56124 Pisa, ItalyTonacchera, Massimo论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, Dipartimento Med Clin & Sperimentale, Div Endocrinol, Azienda Osped Univ Pisana, I-56124 Pisa, Italy Univ Pisa, Dipartimento Med Clin & Sperimentale, Sez Endocrinol, Azienda Osped Univ Pisana, I-56124 Pisa, Italy
- [8] Male hypogonadism caused by a homozygous missense mutation of the LHB geneKOREAN JOURNAL OF INTERNAL MEDICINE, 2021, 36 (06): : 1527 - 1529Chen, Jie论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Affiliated Yantai Yuhuangding Hosp, Reprod Med Ctr, 20 Yuhuangding East Rd, Yantai 264000, Peoples R China Qingdao Univ, Affiliated Yantai Yuhuangding Hosp, Reprod Med Ctr, 20 Yuhuangding East Rd, Yantai 264000, Peoples R ChinaYi, Wen-ting论文数: 0 引用数: 0 h-index: 0机构: Binzhou Med Univ, Yantai Affiliated Hosp, Lab Med, Yantai, Peoples R China Qingdao Univ, Affiliated Yantai Yuhuangding Hosp, Reprod Med Ctr, 20 Yuhuangding East Rd, Yantai 264000, Peoples R ChinaCui, Yuan-Qing论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Affiliated Yantai Yuhuangding Hosp, Reprod Med Ctr, 20 Yuhuangding East Rd, Yantai 264000, Peoples R China Qingdao Univ, Affiliated Yantai Yuhuangding Hosp, Reprod Med Ctr, 20 Yuhuangding East Rd, Yantai 264000, Peoples R ChinaWang, Wen-ting论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Affiliated Yantai Yuhuangding Hosp, Cent Lab, Yantai, Peoples R China Qingdao Univ, Affiliated Yantai Yuhuangding Hosp, Reprod Med Ctr, 20 Yuhuangding East Rd, Yantai 264000, Peoples R ChinaWang, Xiong论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Affiliated Yantai Yuhuangding Hosp, Reprod Med Ctr, 20 Yuhuangding East Rd, Yantai 264000, Peoples R China Qingdao Univ, Affiliated Yantai Yuhuangding Hosp, Reprod Med Ctr, 20 Yuhuangding East Rd, Yantai 264000, Peoples R China
- [9] Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin geneEuropean Journal of Pediatrics, 2013, 172 : 959 - 964Patrizia Agretti论文数: 0 引用数: 0 h-index: 0机构: Università di Pisa,Dipartimento di Medicina Clinica e Sperimentale, Sezione di EndocrinologiaGiuseppina De Marco论文数: 0 引用数: 0 h-index: 0机构: Università di Pisa,Dipartimento di Medicina Clinica e Sperimentale, Sezione di EndocrinologiaCaterina Di Cosmo论文数: 0 引用数: 0 h-index: 0机构: Università di Pisa,Dipartimento di Medicina Clinica e Sperimentale, Sezione di EndocrinologiaEleonora Ferrarini论文数: 0 引用数: 0 h-index: 0机构: Università di Pisa,Dipartimento di Medicina Clinica e Sperimentale, Sezione di EndocrinologiaLucia Montanelli论文数: 0 引用数: 0 h-index: 0机构: Università di Pisa,Dipartimento di Medicina Clinica e Sperimentale, Sezione di EndocrinologiaBrunella Bagattini论文数: 0 引用数: 0 h-index: 0机构: Università di Pisa,Dipartimento di Medicina Clinica e Sperimentale, Sezione di EndocrinologiaPaolo Vitti论文数: 0 引用数: 0 h-index: 0机构: Università di Pisa,Dipartimento di Medicina Clinica e Sperimentale, Sezione di EndocrinologiaMassimo Tonacchera论文数: 0 引用数: 0 h-index: 0机构: Università di Pisa,Dipartimento di Medicina Clinica e Sperimentale, Sezione di Endocrinologia
- [10] A homozygous pathogenic variant in DYSF gene caused Miyoshi myopathy in an Iranian familyEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 140 - 141Jebelli, Asiyeh论文数: 0 引用数: 0 h-index: 0机构: Higher Educ Inst Rab Rashid, Fac Basic Sci, Dept Biol Sci, Tabriz, Iran Higher Educ Inst Rab Rashid, Fac Basic Sci, Dept Biol Sci, Tabriz, IranBaghshomali, Saba论文数: 0 引用数: 0 h-index: 0机构: Higher Educ Inst Rab Rashid, Fac Basic Sci, Dept Biol Sci, Tabriz, Iran Higher Educ Inst Rab Rashid, Fac Basic Sci, Dept Biol Sci, Tabriz, Iran论文数: 引用数: h-index:机构:Firyaei, Fahimeh论文数: 0 引用数: 0 h-index: 0机构: Hamadan Univ Med Sci, Dept Mol Med & Genet, Res Ctr Mol Med, Sch Med, Hamadan, Iran Higher Educ Inst Rab Rashid, Fac Basic Sci, Dept Biol Sci, Tabriz, IranGovar, Leila Emrahi论文数: 0 引用数: 0 h-index: 0机构: Tarbiat Modares Univ, Dept Med Genet, Fac Med Sci, Tehran, Iran Iranian Legal Med Org, Legal Med Res Ctr, Tehran, Iran Higher Educ Inst Rab Rashid, Fac Basic Sci, Dept Biol Sci, Tabriz, Iran