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- [1] Genotype-Phenotype Correlations in Osteogenesis Imperfecta: A Retrospective Study in 294 PatientsJOURNAL OF BONE AND MINERAL RESEARCH, 2023, 38 : 74 - 75Byrd, Jay论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska Med Ctr, Lincoln, NE USA Univ Nebraska Med Ctr, Lincoln, NE USAWhite, Andrew论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska Med Ctr, Lincoln, NE USA Univ Nebraska Med Ctr, Lincoln, NE USASchissel, Makayla论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska Med Ctr, Lincoln, NE USA Univ Nebraska Med Ctr, Lincoln, NE USAVanOrmer, Matthew论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska Med Ctr, Lincoln, NE USA Univ Nebraska Med Ctr, Lincoln, NE USAVelasco, Danita论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska Med Ctr, Lincoln, NE USA Univ Nebraska Med Ctr, Lincoln, NE USAWallace, Maegen论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska Med Ctr, Lincoln, NE USA Univ Nebraska Med Ctr, Lincoln, NE USA
- [2] Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patientsEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 (07) : 1090 - 1100Maioli, Margherita论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, Italy IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, ItalyGnoli, Maria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, Italy IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, ItalyBoarini, Manila论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Ortoped Rizzoli, CLIBI Lab, Bologna, Italy IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, ItalyTremosini, Morena论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, Italy IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, ItalyZambrano, Anna论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Pediat, Ctr Congenital Osteodystrophy, Rome, Italy IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, ItalyPedrini, Elena论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, Italy IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, ItalyMordenti, Marina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Ortoped Rizzoli, CLIBI Lab, Bologna, Italy IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, ItalyCorsini, Serena论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, Italy IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, ItalyD'Eufemia, Patrizia论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Pediat, Ctr Congenital Osteodystrophy, Rome, Italy IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, ItalyVersacci, Paolo论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Pediat, Rome, Italy IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, ItalyCelli, Mauro论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Pediat, Ctr Congenital Osteodystrophy, Rome, Italy IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, ItalySangiorgi, Luca论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, Italy IRCCS Ist Ortoped Rizzoli, CLIBI Lab, Bologna, Italy IRCCS Ist Ortoped Rizzoli, Dept Med Genet & Rare Orthopaed Dis, Bologna, Italy
- [3] 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
- [4] 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
- [5] Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlationBDJ OPEN, 2019, 5 (01)论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Beighton, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Cape Town, Univ Western Cape, Red Cross Childrens Hosp, Collaborat Dent Genet Clin, Cape Town, South Africa Univ Cape Town, Div Human Genet, Fac Hlth Sci, Rondebosch, South Africa Univ Western Cape, Fac Dent, Cape Town, South Africa
- [6] Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfectaBONE, 2018, 110 : 368 - 377Mrosk, Julia论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet & Human Genet, Augustenburger Pl 1, D-13353 Berlin, Germany Humboldt Univ, Freie Univ Berlin, Augustenburger Pl 1, D-13353 Berlin, Germany Berlin Inst Hlth, Augustenburger Pl 1, D-13353 Berlin, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Augustenburger Pl 1, D-13353 Berlin, GermanyBhavani, Gandham SriLakshmi论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India Charite Univ Med Berlin, Inst Med Genet & Human Genet, Augustenburger Pl 1, D-13353 Berlin, GermanyShah, Hitesh论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Orthoped, Pediat Orthoped Serv, Manipal, Karnataka, India Charite Univ Med Berlin, Inst Med Genet & Human Genet, Augustenburger Pl 1, D-13353 Berlin, GermanyHecht, Jochen论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Freie Univ Berlin, Augustenburger Pl 1, D-13353 Berlin, Germany Berlin Inst Hlth, Augustenburger Pl 1, D-13353 Berlin, Germany Charite Univ Med Berlin, Berlin Brandenburg Ctr Regenerat Therapies, Berlin, Germany Barcelona Inst Sci & Technol, Ctr Genom Regulat CRG, Dr Aiguader 88, Barcelona 08003, Spain UPF, Barcelona 08002, Spain Charite Univ Med Berlin, Inst Med Genet & Human Genet, Augustenburger Pl 1, D-13353 Berlin, GermanyKruger, Ulrike论文数: 0 引用数: 0 h-index: 0机构: Barcelona Inst Sci & Technol, Ctr Genom Regulat CRG, Dr Aiguader 88, Barcelona 08003, Spain Charite Univ Med Berlin, Inst Med Genet & Human Genet, Augustenburger Pl 1, D-13353 Berlin, GermanyShukla, Anju论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India Charite Univ Med Berlin, Inst Med Genet & Human Genet, Augustenburger Pl 1, D-13353 Berlin, GermanyKornak, Uwe论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet & Human Genet, Augustenburger Pl 1, D-13353 Berlin, Germany Humboldt Univ, Freie Univ Berlin, Augustenburger Pl 1, D-13353 Berlin, Germany Berlin Inst Hlth, Augustenburger Pl 1, D-13353 Berlin, Germany Charite Univ Med Berlin, Berlin Brandenburg Ctr Regenerat Therapies, Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Augustenburger Pl 1, D-13353 Berlin, GermanyGirisha, Katta Mohan论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India Charite Univ Med Berlin, Inst Med Genet & Human Genet, Augustenburger Pl 1, D-13353 Berlin, Germany
- [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 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
- [9] Genotype-phenotype correlations in 294 pediatric patients with osteogenesis imperfectaJBMR PLUS, 2024, 8 (11)Byrd, Jay J.论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska Med Ctr, Coll Med, Omaha, NE 68198 USA Univ Nebraska Med Ctr, Child Hlth Res Inst, Omaha, NE 68198 USA Univ Nebraska Med Ctr, Coll Med, Omaha, NE 68198 USAWhite, Andrew C.论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska Med Ctr, Coll Med, Omaha, NE 68198 USA Univ Nebraska Med Ctr, Coll Med, Omaha, NE 68198 USANissen, Claire G.论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska Med Ctr, Coll Med, Omaha, NE 68198 USA Univ Nebraska Med Ctr, Coll Med, Omaha, NE 68198 USASchissel, Makayla论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska Med Ctr, Coll Publ Hlth, Dept Biostat, Omaha, NE 68198 USA Univ Nebraska Med Ctr, Coll Med, Omaha, NE 68198 USAVan Ormer, Matthew论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska Med Ctr, Child Hlth Res Inst, Omaha, NE 68198 USA Univ Nebraska Med Ctr, Coll Med, Omaha, NE 68198 USAVelasco, Danita论文数: 0 引用数: 0 h-index: 0机构: Childrens Nebraska, Dept Pediat, Div Genet, Omaha, NE 68114 USA Univ Nebraska Med Ctr, Coll Med, Omaha, NE 68198 USAWallace, Maegen论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Dept Pediat Orthopaed Surg, Phoenix, AZ 85016 USA Univ Nebraska Med Ctr, Coll Med, Omaha, NE 68198 USA
- [10] 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