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- [1] Genotype and Phenotype Correlation of Patients with Osteogenesis ImperfectaJOURNAL OF MOLECULAR DIAGNOSTICS, 2024, 26 (09): : 754 - 769Aliyeva, Lamiya论文数: 0 引用数: 0 h-index: 0机构: Bursa Uludag Univ, Fac Med, Dept Med Genet, TR-16285 Bursa, Turkiye Atakent Hosp, Dept Med Genet, Acibadem Hlth Grp, Istanbul, Turkiye Bursa Uludag Univ, Fac Med, Dept Med Genet, TR-16285 Bursa, TurkiyeOngen, Yasemin Denkboy论文数: 0 引用数: 0 h-index: 0机构: Uludag Univ, Fac Med, Dept Pediat Endocrinol, Bursa, Turkiye Bursa Uludag Univ, Fac Med, Dept Med Genet, TR-16285 Bursa, TurkiyeEren, Erdal论文数: 0 引用数: 0 h-index: 0机构: Uludag Univ, Fac Med, Dept Pediat Endocrinol, Bursa, Turkiye Bursa Uludag Univ, Fac Med, Dept Med Genet, TR-16285 Bursa, TurkiyeSarisozen, Mehmet B.论文数: 0 引用数: 0 h-index: 0机构: Bursa Uludag Univ, Dept Orthopaed & Traumatol, Fac Med, Bursa, Turkiye Bursa Uludag Univ, Fac Med, Dept Med Genet, TR-16285 Bursa, TurkiyeAlemdar, Adem论文数: 0 引用数: 0 h-index: 0机构: Bursa Uludag Univ, Hlth Sci Inst, Dept Translat Med, TR-16285 Bursa, Turkiye Bursa Uludag Univ, Fac Med, Dept Med Genet, TR-16285 Bursa, TurkiyeTemel, Sehime G.论文数: 0 引用数: 0 h-index: 0机构: Bursa Uludag Univ, Fac Med, Dept Med Genet, TR-16285 Bursa, Turkiye Bursa Uludag Univ, Dept Histol & Embryol, Fac Med, Bursa, Turkiye Bursa Uludag Univ, Hlth Sci Inst, Dept Translat Med, TR-16285 Bursa, Turkiye Bursa Uludag Univ, Fac Med, Dept Med Genet, TR-16285 Bursa, TurkiyeSag, Sebnem Ozemri论文数: 0 引用数: 0 h-index: 0机构: Bursa Uludag Univ, Fac Med, Dept Med Genet, TR-16285 Bursa, Turkiye Bursa Uludag Univ, Fac Med, Dept Med Genet, TR-16285 Bursa, Turkiye
- [2] Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotypeOrphanet Journal of Rare Diseases, 6Freya KR Swinnen论文数: 0 引用数: 0 h-index: 0机构: Ghent University Hospital,Department of OtorhinolaryngologyPaul J Coucke论文数: 0 引用数: 0 h-index: 0机构: Ghent University Hospital,Department of OtorhinolaryngologyAnne M De Paepe论文数: 0 引用数: 0 h-index: 0机构: Ghent University Hospital,Department of OtorhinolaryngologySofie Symoens论文数: 0 引用数: 0 h-index: 0机构: Ghent University Hospital,Department of OtorhinolaryngologyFransiska Malfait论文数: 0 引用数: 0 h-index: 0机构: Ghent University Hospital,Department of OtorhinolaryngologyFilomena V Gentile论文数: 0 引用数: 0 h-index: 0机构: Ghent University Hospital,Department of OtorhinolaryngologyLuca Sangiorgi论文数: 0 引用数: 0 h-index: 0机构: Ghent University Hospital,Department of OtorhinolaryngologyPatrizia D'Eufemia论文数: 0 引用数: 0 h-index: 0机构: Ghent University Hospital,Department of OtorhinolaryngologyMauro Celli论文数: 0 引用数: 0 h-index: 0机构: Ghent University Hospital,Department of OtorhinolaryngologyTon JTM Garretsen论文数: 0 引用数: 0 h-index: 0机构: Ghent University Hospital,Department of OtorhinolaryngologyCor WRJ Cremers论文数: 0 引用数: 0 h-index: 0机构: Ghent University Hospital,Department of OtorhinolaryngologyIngeborg JM Dhooge论文数: 0 引用数: 0 h-index: 0机构: Ghent University Hospital,Department of OtorhinolaryngologyEls MR De Leenheer论文数: 0 引用数: 0 h-index: 0机构: Ghent University Hospital,Department of Otorhinolaryngology
- [3] OSTEOGENESIS IMPERFECTA - FROM PHENOTYPE TO GENOTYPE AND BACK AGAININTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY, 1994, 75 (04) : 233 - 241SMITH, R论文数: 0 引用数: 0 h-index: 0机构: JOHN RADCLIFFE HOSP, OXFORD OX3 9DU, ENGLAND JOHN RADCLIFFE HOSP, OXFORD OX3 9DU, ENGLAND
- [4] Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfectaORPHANET JOURNAL OF RARE DISEASES, 2015, 10Lin, Hsiang-Yu论文数: 0 引用数: 0 h-index: 0机构: Mackay Med Coll, Dept Med, New Taipei, Taiwan Mackay Mem Hosp, Dept Pediat, Taipei 10449, Taiwan Mackay Mem Hosp, Dept Med Res, Taipei 10449, Taiwan Mackay Med Nursing & Management Coll, Taipei, Taiwan Natl Yang Ming Univ, Inst Clin Med, Taipei 112, Taiwan Mackay Med Coll, Dept Med, New Taipei, TaiwanChuang, Chih-Kuang论文数: 0 引用数: 0 h-index: 0机构: Mackay Mem Hosp, Dept Med Res, Taipei 10449, Taiwan Fu Jen Catholic Univ, Coll Med, Taipei, Taiwan Natl Taipei Univ Technol, Inst Biotechnol, Taipei 106, Taiwan Mackay Med Coll, Dept Med, New Taipei, TaiwanSu, Yi-Ning论文数: 0 引用数: 0 h-index: 0机构: Taipei Med Univ, Sch Med, Dept Obstet & Gynecol, Coll Med, Taipei, Taiwan Mackay Med Coll, Dept Med, New Taipei, TaiwanChen, Ming-Ren论文数: 0 引用数: 0 h-index: 0机构: Mackay Med Coll, Dept Med, New Taipei, Taiwan Mackay Mem Hosp, Dept Pediat, Taipei 10449, Taiwan Mackay Med Nursing & Management Coll, Taipei, Taiwan Mackay Med Coll, Dept Med, New Taipei, TaiwanChiu, Hui-Chin论文数: 0 引用数: 0 h-index: 0机构: Mackay Mem Hosp, Dept Pediat, Taipei 10449, Taiwan Mackay Med Coll, Dept Med, New Taipei, TaiwanNiu, Dau-Ming论文数: 0 引用数: 0 h-index: 0机构: Natl Yang Ming Univ, Inst Clin Med, Taipei 112, Taiwan Taipei Vet Gen Hosp, Dept Pediat, Taipei, Taiwan Mackay Med Coll, Dept Med, New Taipei, TaiwanLin, Shuan-Pei论文数: 0 引用数: 0 h-index: 0机构: Mackay Med Coll, Dept Med, New Taipei, Taiwan Mackay Mem Hosp, Dept Pediat, Taipei 10449, Taiwan Mackay Mem Hosp, Dept Med Res, Taipei 10449, Taiwan Mackay Med Nursing & Management Coll, Taipei, Taiwan Natl Taipei Univ Nursing & Hlth Sci, Dept Infant & Child Care, Taipei, Taiwan Mackay Med Coll, Dept Med, New Taipei, Taiwan
- [5] Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotypeORPHANET JOURNAL OF RARE DISEASES, 2011, 6Swinnen, Freya K. R.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Otorhinolaryngol, B-9000 Ghent, Belgium Ghent Univ Hosp, Dept Otorhinolaryngol, B-9000 Ghent, BelgiumCoucke, Paul J.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium Ghent Univ Hosp, Dept Otorhinolaryngol, B-9000 Ghent, BelgiumDe Paepe, Anne M.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium Ghent Univ Hosp, Dept Otorhinolaryngol, B-9000 Ghent, BelgiumSymoens, Sofie论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium Ghent Univ Hosp, Dept Otorhinolaryngol, B-9000 Ghent, BelgiumMalfait, Fransiska论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium Ghent Univ Hosp, Dept Otorhinolaryngol, B-9000 Ghent, BelgiumGentile, Filomena V.论文数: 0 引用数: 0 h-index: 0机构: Rizzoli Orthopaed Inst, Dept Med Genet & Rare Orthopaed Dis, I-40136 Bologna, Italy Ghent Univ Hosp, Dept Otorhinolaryngol, B-9000 Ghent, BelgiumSangiorgi, Luca论文数: 0 引用数: 0 h-index: 0机构: Rizzoli Orthopaed Inst, Dept Med Genet & Rare Orthopaed Dis, I-40136 Bologna, Italy Ghent Univ Hosp, Dept Otorhinolaryngol, B-9000 Ghent, BelgiumD'Eufemia, Patrizia论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Pediat, I-00161 Rome, Italy Ghent Univ Hosp, Dept Otorhinolaryngol, B-9000 Ghent, BelgiumCelli, Mauro论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Pediat, I-00161 Rome, Italy Ghent Univ Hosp, Dept Otorhinolaryngol, B-9000 Ghent, BelgiumGarretsen, Ton J. T. M.论文数: 0 引用数: 0 h-index: 0机构: Med Ctr Alkmaar, Dept Otorhinolaryngol, NL-1815 JD Alkmaar, Netherlands Ghent Univ Hosp, Dept Otorhinolaryngol, B-9000 Ghent, BelgiumCremers, Cor W. R. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, FC Donders Inst Neurosci, Med Ctr, Dept Otorhinolaryngol, NL-6500 HB Nijmegen, Netherlands Ghent Univ Hosp, Dept Otorhinolaryngol, B-9000 Ghent, BelgiumDhooge, Ingeborg J. M.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Otorhinolaryngol, B-9000 Ghent, Belgium Ghent Univ Hosp, Dept Otorhinolaryngol, B-9000 Ghent, BelgiumDe Leenheer, Els M. R.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Otorhinolaryngol, B-9000 Ghent, Belgium Ghent Univ Hosp, Dept Otorhinolaryngol, B-9000 Ghent, Belgium
- [6] Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfectaOrphanet Journal of Rare Diseases, 10Hsiang-Yu Lin论文数: 0 引用数: 0 h-index: 0机构: Mackay Medical College,Department of MedicineChih-Kuang Chuang论文数: 0 引用数: 0 h-index: 0机构: Mackay Medical College,Department of MedicineYi-Ning Su论文数: 0 引用数: 0 h-index: 0机构: Mackay Medical College,Department of MedicineMing-Ren Chen论文数: 0 引用数: 0 h-index: 0机构: Mackay Medical College,Department of MedicineHui-Chin Chiu论文数: 0 引用数: 0 h-index: 0机构: Mackay Medical College,Department of MedicineDau-Ming Niu论文数: 0 引用数: 0 h-index: 0机构: Mackay Medical College,Department of MedicineShuan-Pei Lin论文数: 0 引用数: 0 h-index: 0机构: Mackay Medical College,Department of Medicine
- [7] Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis ImperfectaJOURNAL OF OSTEOPOROSIS, 2011, 2011Ben Amor, I. Mouna论文数: 0 引用数: 0 h-index: 0机构: Shriners Hosp Children, Montreal, PQ H3G 1A6, Canada Shriners Hosp Children, Montreal, PQ H3G 1A6, CanadaGlorieux, Francis H.论文数: 0 引用数: 0 h-index: 0机构: Shriners Hosp Children, Montreal, PQ H3G 1A6, Canada Shriners Hosp Children, Montreal, PQ H3G 1A6, CanadaRauch, Frank论文数: 0 引用数: 0 h-index: 0机构: Shriners Hosp Children, Montreal, PQ H3G 1A6, Canada Shriners Hosp Children, Montreal, PQ H3G 1A6, Canada
- [8] Genotype-phenotype study in type V osteogenesis imperfectaCLINICAL DYSMORPHOLOGY, 2013, 22 (03) : 93 - 101Balasubramanian, Meena论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, EnglandParker, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, EnglandDalton, Ann论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Sheffield Diagnost Genet Serv, Sheffield S10 2TH, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, EnglandGiunta, Cecilia论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Connect Tissue Unit, Div Metab, Zurich, Switzerland Univ Childrens Hosp, Childrens Res Ctr, Zurich, Switzerland Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, EnglandLindert, Uschi论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Connect Tissue Unit, Div Metab, Zurich, Switzerland Univ Childrens Hosp, Childrens Res Ctr, Zurich, Switzerland Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, EnglandPeres, Luiz C.论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Dept Histopathol, Sheffield S10 2TH, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, EnglandWagner, Bart E.论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Royal Hallamshire Hosp, Dept Histopathol, Electron Microscopy Unit, Sheffield S10 2JF, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, EnglandArundel, Paul论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Acad Unit Child Hlth, Sheffield S10 2JF, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, EnglandOffiah, Amaka论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Acad Unit Child Hlth, Sheffield S10 2JF, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, EnglandBishop, Nicholas J.论文数: 0 引用数: 0 h-index: 0机构: Univ Sheffield, Acad Unit Child Hlth, Sheffield S10 2JF, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, England
- [9] Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype–phenotype correlationBDJ Open, 5M. Chetty论文数: 0 引用数: 0 h-index: 0机构: University of the Western Cape,Faculty of DentistryT. Roberts论文数: 0 引用数: 0 h-index: 0机构: University of the Western Cape,Faculty of DentistryS. Shaik论文数: 0 引用数: 0 h-index: 0机构: University of the Western Cape,Faculty of DentistryP. Beighton论文数: 0 引用数: 0 h-index: 0机构: University of the Western Cape,Faculty of Dentistry
- [10] Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfectaCLINICA CHIMICA ACTA, 2018, 484 : 141 - 147Nawawi, Nadiah Mohd论文数: 0 引用数: 0 h-index: 0机构: UKM Med Mol Biol Inst UMBI, Jalan Yaacob Latiff, Kuala Lumpur 56000, Malaysia UKM Med Mol Biol Inst UMBI, Jalan Yaacob Latiff, Kuala Lumpur 56000, MalaysiaSelveindran, Nalini M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Putrajaya, Dept Pediat, Fed Govt Adm Ctr, Jalan P9,Precint 7, Putrajaya 62250, Malaysia UKM Med Mol Biol Inst UMBI, Jalan Yaacob Latiff, Kuala Lumpur 56000, MalaysiaRasat, Rahmah论文数: 0 引用数: 0 h-index: 0机构: UKM Med Ctr, Dept Pediat, Jalan Yaacob Latiff, Kuala Lumpur 56000, Malaysia UKM Med Mol Biol Inst UMBI, Jalan Yaacob Latiff, Kuala Lumpur 56000, MalaysiaPing, Chow Yock论文数: 0 引用数: 0 h-index: 0机构: UKM Med Mol Biol Inst UMBI, Jalan Yaacob Latiff, Kuala Lumpur 56000, Malaysia UKM Med Mol Biol Inst UMBI, Jalan Yaacob Latiff, Kuala Lumpur 56000, MalaysiaLatiff, Zarina Abdul论文数: 0 引用数: 0 h-index: 0机构: UKM Med Ctr, Dept Pediat, Jalan Yaacob Latiff, Kuala Lumpur 56000, Malaysia UKM Med Mol Biol Inst UMBI, Jalan Yaacob Latiff, Kuala Lumpur 56000, MalaysiaZakaria, Syed Zulkifli Syed论文数: 0 引用数: 0 h-index: 0机构: UKM Med Ctr, Dept Pediat, Jalan Yaacob Latiff, Kuala Lumpur 56000, Malaysia UKM Med Mol Biol Inst UMBI, Jalan Yaacob Latiff, Kuala Lumpur 56000, MalaysiaJamal, Rahman论文数: 0 引用数: 0 h-index: 0机构: UKM Med Mol Biol Inst UMBI, Jalan Yaacob Latiff, Kuala Lumpur 56000, Malaysia UKM Med Mol Biol Inst UMBI, Jalan Yaacob Latiff, Kuala Lumpur 56000, MalaysiaMurad, Nor Azian Abdul论文数: 0 引用数: 0 h-index: 0机构: UKM Med Mol Biol Inst UMBI, Jalan Yaacob Latiff, Kuala Lumpur 56000, Malaysia UKM Med Mol Biol Inst UMBI, Jalan Yaacob Latiff, Kuala Lumpur 56000, MalaysiaAbd Aziz, Bilkis Banu论文数: 0 引用数: 0 h-index: 0机构: UKM Med Ctr, Dept Pediat, Jalan Yaacob Latiff, Kuala Lumpur 56000, Malaysia UKM Med Mol Biol Inst UMBI, Jalan Yaacob Latiff, Kuala Lumpur 56000, Malaysia