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- [11] Clinical and genetic heterogeneity and ethnic differences in Bulgarian FSHD patientsEUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 127 - 127Tzankov, B论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, Sofia, BulgariaTournev, I论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, Sofia, BulgariaJanpierre, M论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, Sofia, Bulgaria
- [12] Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase γARCHIVES OF NEUROLOGY, 2003, 60 (09) : 1279 - 1284Filosto, M论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USAMancuso, M论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USANishigaki, Y论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USAPancrudo, J论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USAHarati, Y论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USAGooch, C论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USAMankodi, A论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USABayne, L论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USABonilla, E论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USAShanske, S论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USAHirano, M论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USADiMauro, S论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA
- [13] Pathological and clinical heterogeneity of presenilin 1 gene mutationsJOURNAL OF ALZHEIMERS DISEASE, 2004, 6 (05) : 475 - 482Menéndez, M论文数: 0 引用数: 0 h-index: 0机构: Univ Oviedo, Hosp Cent Asturias, Serv Neurol 1, Oviedo, Spain Univ Oviedo, Hosp Cent Asturias, Serv Neurol 1, Oviedo, Spain
- [14] Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohortHORMONE RESEARCH IN PAEDIATRICS, 2021, 94 (SUPPL 1): : 39 - 40McGlacken-Byrne, Sinead M.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, England Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, EnglandMohammad, Jasmina Kallefullah论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, England Univ Coll Dublin, Sch Med, Dublin, Ireland Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, EnglandConlon, Niamh论文数: 0 引用数: 0 h-index: 0机构: Childrens Hlth Ireland, Dept Paediat Endocrinol, Temple St, Dublin, Ireland Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, EnglandGubaeva, Diliara论文数: 0 引用数: 0 h-index: 0机构: Endocrinol Res Ctr, Dept Paediat Endocrinol, Moscow, Russia Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, EnglandSiersbaek, Julie论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Clin Genet, Odense, Denmark Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, EnglandSchou, Anders Jorgen论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Clin Genet, Odense, Denmark Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, EnglandDemibilek, Huseyin论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Pediat Endocrinol, Fac Med, Ankara, Turkey Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, EnglandDastamani, Antonia论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, England Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, EnglandHoughton, Jayne论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Genom Lab, Exeter, Devon, England Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, EnglandBrusgaard, Klaus论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Clin Genet, Odense, Denmark Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, EnglandMelikyan, Maria论文数: 0 引用数: 0 h-index: 0机构: Endocrinol Res Ctr, Dept Paediat Endocrinol, Moscow, Russia Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, EnglandChristesen, Henrik论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Clin Genet, Odense, Denmark Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, EnglandFlanagan, Sarah E.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Inst Biomed & Clin Sci, Med Sch, Exeter, Devon, England Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, EnglandMurphy, Nuala P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hlth Ireland, Dept Paediat Endocrinol, Temple St, Dublin, Ireland Univ Coll Dublin, Sch Med, Dublin, Ireland Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, EnglandShah, Pratik论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, England Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol, London, England
- [15] Somatic GNAS mutations in acromegaly: prevalence, clinical features and gender differencesENDOCRINE CONNECTIONS, 2025, 14 (01)Yang, Yamei论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R ChinaYao, Yong论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Neurosurg, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R ChinaDeng, Kan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Neurosurg, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R ChinaXing, Bin论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Neurosurg, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R ChinaLian, Wei论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Neurosurg, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R ChinaYou, Hui论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Radiol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R ChinaFeng, Feng论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Radiol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R ChinaLian, Xin论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Radiat Oncol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R ChinaMao, Xinxin论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Pathol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R ChinaGong, Fengying论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, State Key Lab Complex Severe & Rare Dis, Dept Endocrinol,Key Lab Endocrinol,Natl Hlth Commi, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R ChinaWang, Linjie论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, State Key Lab Complex Severe & Rare Dis, Dept Endocrinol,Key Lab Endocrinol,Natl Hlth Commi, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R ChinaChen, Meiping论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, State Key Lab Complex Severe & Rare Dis, Dept Endocrinol,Key Lab Endocrinol,Natl Hlth Commi, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R ChinaKe, Xiaoan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, State Key Lab Complex Severe & Rare Dis, Dept Endocrinol,Key Lab Endocrinol,Natl Hlth Commi, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R ChinaMiao, Hui论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, State Key Lab Complex Severe & Rare Dis, Dept Endocrinol,Key Lab Endocrinol,Natl Hlth Commi, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R ChinaDuan, Lian论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, State Key Lab Complex Severe & Rare Dis, Dept Endocrinol,Key Lab Endocrinol,Natl Hlth Commi, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R ChinaZhu, Huijuan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, State Key Lab Complex Severe & Rare Dis, Dept Endocrinol,Key Lab Endocrinol,Natl Hlth Commi, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ultrasound, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R China
- [16] Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromesHUMAN HEREDITY, 1998, 48 (06) : 325 - 332Menold, MM论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Med, Med Genet Sect, Durham, NC 27710 USASadeh, M论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Med, Med Genet Sect, Durham, NC 27710 USALennon, F论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Med, Med Genet Sect, Durham, NC 27710 USABlatt, I论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Med, Med Genet Sect, Durham, NC 27710 USAGoldhammer, Y论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Med, Med Genet Sect, Durham, NC 27710 USAYamaoka, LH论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Med, Med Genet Sect, Durham, NC 27710 USAVance, JM论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Med, Med Genet Sect, Durham, NC 27710 USAPericak-Vance, MA论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Med, Med Genet Sect, Durham, NC 27710 USA
- [17] Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic DiagnosisGENES, 2022, 13 (06)论文数: 引用数: h-index:机构:Lee, Grace论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Irvine, Dept Pediat, Div Genet & Genom Med, Med Ctr, Orange, CA 92868 USA Univ Calgary, Cumming Sch Med, Hotchkiss Brain Inst, Dept Clin Neurosci, Calgary, AB T2N 4N1, CanadaPontifex, Carly S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Cumming Sch Med, Hotchkiss Brain Inst, Dept Clin Neurosci, Calgary, AB T2N 4N1, Canada Univ Calgary, Cumming Sch Med, Hotchkiss Brain Inst, Dept Clin Neurosci, Calgary, AB T2N 4N1, CanadaFanganiello, Roberto D.论文数: 0 引用数: 0 h-index: 0机构: Univ Laval, Fac Dent Med, Oral Ecol Res Grp, Quebec City, PQ G1V 0A6, Canada Univ Calgary, Cumming Sch Med, Hotchkiss Brain Inst, Dept Clin Neurosci, Calgary, AB T2N 4N1, CanadaPeck, Allison论文数: 0 引用数: 0 h-index: 0机构: Cure VCP Dis Inc, Americus, GA 31709 USA Univ Calgary, Cumming Sch Med, Hotchkiss Brain Inst, Dept Clin Neurosci, Calgary, AB T2N 4N1, CanadaWeihl, Conrad C.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Neurol, Sch Med, St Louis, MO 63110 USA Univ Calgary, Cumming Sch Med, Hotchkiss Brain Inst, Dept Clin Neurosci, Calgary, AB T2N 4N1, CanadaKimonis, Virginia论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Irvine, Dept Pediat, Div Genet & Genom Med, Med Ctr, Orange, CA 92868 USA Univ Calgary, Cumming Sch Med, Hotchkiss Brain Inst, Dept Clin Neurosci, Calgary, AB T2N 4N1, Canada
- [18] Clinical and Genetic Heterogeneity of CARD14 Mutations in Psoriatic Skin DiseaseFRONTIERS IN IMMUNOLOGY, 2018, 9Israel, Laura论文数: 0 引用数: 0 h-index: 0机构: Novartis Inst BioMed Res, Novartis Campus, Basel, Switzerland Novartis Inst BioMed Res, Novartis Campus, Basel, SwitzerlandMellett, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Zurich, Dept Dermatol, Zurich, Switzerland Novartis Inst BioMed Res, Novartis Campus, Basel, Switzerland
- [19] Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in ChinaGENES & DISEASES, 2024, 11 (05)Chen, Yikun论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Inst Neurosci, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Fujian Key Lab Mol Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaShi, Yan论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Inst Neurosci, Fujian Key Lab Mol Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaGao, Yuan论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Inst Neurosci, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Fujian Key Lab Mol Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaHu, Yan论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Electron Microscopy Lab Publ Technol Serv Ctr, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaZhou, Linying论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Electron Microscopy Lab Publ Technol Serv Ctr, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaHong, Jingmei论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Inst Neurosci, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Fujian Key Lab Mol Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaGan, Shirui论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Inst Neurosci, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Fujian Key Lab Mol Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaLin, Xiang论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Inst Neurosci, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Fujian Key Lab Mol Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaChen, Wanjin论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Inst Neurosci, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Fujian Key Lab Mol Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaXu, Guorong论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Inst Neurosci, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Fujian Key Lab Mol Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R ChinaHe, Jin论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Inst Neurosci, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Fujian Key Lab Mol Neurol, Fuzhou 350005, Fujian, Peoples R China Fujian Med Univ, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China
- [20] Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutationsCLINICAL ENDOCRINOLOGY, 2010, 72 (04) : 448 - 454Landau, Zohar论文数: 0 引用数: 0 h-index: 0机构: E Wolfson Med Ctr, Div Pediat Endocrinol, IL-58100 Holon, Israel E Wolfson Med Ctr, Div Pediat Endocrinol, IL-58100 Holon, IsraelHanukoglu, Aaron论文数: 0 引用数: 0 h-index: 0机构: E Wolfson Med Ctr, Div Pediat Endocrinol, IL-58100 Holon, Israel E Wolfson Med Ctr, Div Pediat Endocrinol, IL-58100 Holon, IsraelSack, Joseph论文数: 0 引用数: 0 h-index: 0机构: E Wolfson Med Ctr, Div Pediat Endocrinol, IL-58100 Holon, IsraelGoldstein, Nurit论文数: 0 引用数: 0 h-index: 0机构: Safra Childrens Hosp, Chaim Sheba Med Ctr, Metab Dis Unit, Tel Hashomer, Israel E Wolfson Med Ctr, Div Pediat Endocrinol, IL-58100 Holon, IsraelWeintrob, Naomi论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Inst Endocrinol & Diabet, Petah Tiqwa, Israel E Wolfson Med Ctr, Div Pediat Endocrinol, IL-58100 Holon, IsraelEliakim, Alon论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Sch Med, Dept Pediat, Meir Med Ctr, IL-69978 Tel Aviv, Israel E Wolfson Med Ctr, Div Pediat Endocrinol, IL-58100 Holon, IsraelGillis, David论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Pediat Endocrinol Unit, Jerusalem, Israel E Wolfson Med Ctr, Div Pediat Endocrinol, IL-58100 Holon, IsraelSagi, Michal论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Dept Human Genet, Jerusalem, Israel E Wolfson Med Ctr, Div Pediat Endocrinol, IL-58100 Holon, IsraelShomrat, Ruth论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Tel Aviv Sourasky Med Ctr, Genet Inst, IL-69978 Tel Aviv, Israel E Wolfson Med Ctr, Div Pediat Endocrinol, IL-58100 Holon, IsraelKosinovsky, Elka Bella论文数: 0 引用数: 0 h-index: 0机构: Safra Childrens Hosp, Chaim Sheba Med Ctr, Dept Pediat Emergency, Tel Hashomer, Israel E Wolfson Med Ctr, Div Pediat Endocrinol, IL-58100 Holon, IsraelAnikster, Yair论文数: 0 引用数: 0 h-index: 0机构: Safra Childrens Hosp, Chaim Sheba Med Ctr, Metab Dis Unit, Tel Hashomer, Israel E Wolfson Med Ctr, Div Pediat Endocrinol, IL-58100 Holon, Israel