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Andronikou S., 2001, S Afr J Radiol, V5, P42
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Artner J., 2012, Journal of Musculoskeletal Research, V15, P1230002, DOI 10.1142/S0218957712300025
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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
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Hellemans, J
;
Preobrazhenska, O
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Willaert, A
;
Debeer, P
;
Verdonk, PCM
;
Costa, T
;
Janssens, K
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Menten, B
;
Van Roy, N
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Vermeulen, SJT
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Savarirayan, R
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Van Hul, W
;
Vanhoenacker, F
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Huylebroeck, D
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De Paepe, A
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Naeyaert, JM
;
Vandesompele, J
;
Speleman, F
;
Verschueren, K
;
Coucke, PJ
;
Mortier, GR
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NATURE GENETICS,
2004, 36 (11)
:1213-1218

Hellemans, J
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Preobrazhenska, O
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Willaert, A
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Debeer, P
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Verdonk, PCM
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Costa, T
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Janssens, K
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Menten, B
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Van Roy, N
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Vermeulen, SJT
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Savarirayan, R
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Van Hul, W
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Vanhoenacker, F
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Huylebroeck, D
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

De Paepe, A
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Naeyaert, JM
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Vandesompele, J
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Speleman, F
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Verschueren, K
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Coucke, PJ
论文数: 0 引用数: 0
h-index: 0
机构: Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

Mortier, GR
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, Ctr Med Genet, B-9000 Ghent, Belgium
[4]
Sclerosing Bone Dysplasias: Review and Differentiation from Other Causes of Osteosclerosis
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Ihde, Lauren L.
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Forrester, Deborah M.
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Gottsegen, Christopher J.
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Masih, Sulabha
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Patel, Dakshesh B.
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Vachon, Linda A.
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White, Eric A.
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Matcuk, George R., Jr.
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RADIOGRAPHICS,
2011, 31 (07)
:1865-1882

Ihde, Lauren L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ So Calif, Keck Sch Med, Dept Radiol, Los Angeles, CA 90033 USA Univ So Calif, Keck Sch Med, Dept Radiol, Los Angeles, CA 90033 USA

Forrester, Deborah M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ So Calif, Keck Sch Med, Dept Radiol, Los Angeles, CA 90033 USA Univ So Calif, Keck Sch Med, Dept Radiol, Los Angeles, CA 90033 USA

Gottsegen, Christopher J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ So Calif, Keck Sch Med, Dept Radiol, Los Angeles, CA 90033 USA Univ So Calif, Keck Sch Med, Dept Radiol, Los Angeles, CA 90033 USA

Masih, Sulabha
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Dept Radiol, Greater Los Angeles Vet Adm, Los Angeles, CA USA Univ So Calif, Keck Sch Med, Dept Radiol, Los Angeles, CA 90033 USA

Patel, Dakshesh B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ So Calif, Keck Sch Med, Dept Radiol, Los Angeles, CA 90033 USA Univ So Calif, Keck Sch Med, Dept Radiol, Los Angeles, CA 90033 USA

Vachon, Linda A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ So Calif, Keck Sch Med, Dept Radiol, Los Angeles, CA 90033 USA Univ So Calif, Keck Sch Med, Dept Radiol, Los Angeles, CA 90033 USA

White, Eric A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ So Calif, Keck Sch Med, Dept Radiol, Los Angeles, CA 90033 USA Univ So Calif, Keck Sch Med, Dept Radiol, Los Angeles, CA 90033 USA

Matcuk, George R., Jr.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ So Calif, Keck Sch Med, Dept Radiol, Los Angeles, CA 90033 USA Univ So Calif, Keck Sch Med, Dept Radiol, Los Angeles, CA 90033 USA
[5]
Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway
[J].
Kang, Heeseog
;
Jha, Smita
;
Ivovic, Aleksandra
;
Fratzl-Zelman, Nadja
;
Deng, Zuoming
;
Mitra, Apratim
;
Cabral, Wayne A.
;
Hanson, Eric P.
;
Lange, Eileen
;
Cowen, Edward W.
;
Katz, James
;
Roschger, Paul
;
Klaushofer, Klaus
;
Dale, Ryan K.
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Siegel, Richard M.
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Bhattacharyya, Timothy
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Marini, Joan C.
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JOURNAL OF EXPERIMENTAL MEDICINE,
2020, 217 (05)

Kang, Heeseog
论文数: 0 引用数: 0
h-index: 0
机构:
NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA

Jha, Smita
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, Clin & Invest Orthoped Surg Unit, NIH, Bethesda, MD 20892 USA
NICHHD, Program Reprod & Adult Endocrinol, NIH, Bethesda, MD 20892 USA
NIH, Sect Congenital Disorders, Clin Ctr, Bldg 10, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA

Ivovic, Aleksandra
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, ImmunoreguLat Sect, Autoimmun Branch, NIH, Bethesda, MD 20892 USA
Wellcome Sanger Inst, Canc Ageing & Somat Mutat, Hinxton, Cambs, England NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA

Fratzl-Zelman, Nadja
论文数: 0 引用数: 0
h-index: 0
机构:
Hanusch Hosp Wiener Gebietskrankenkasse, Ludwig Boltzmann Inst Osteol, Vienna, Austria
Hanusch Hosp, Allgemeine Unfahversicherungsanstalt Trauma Ctr M, Med Dept 1, Vienna, Austria NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA

Deng, Zuoming
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, Biodata Min & Discovery Sect, Off Sci & Technol, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA

Mitra, Apratim
论文数: 0 引用数: 0
h-index: 0
机构:
NICHHD, Bioinformat & Sci Programming Core, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA

Cabral, Wayne A.
论文数: 0 引用数: 0
h-index: 0
机构:
NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA
NHGRI, Mol Genet Sect, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA

Hanson, Eric P.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, Immunodeficiency & Inflammat Unit, Autoimmun Branch, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA

Lange, Eileen
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, Off Clin Director, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA

Cowen, Edward W.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, Dermatol Branch, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA

Katz, James
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, Off Clin Director, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA

Roschger, Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Hanusch Hosp Wiener Gebietskrankenkasse, Ludwig Boltzmann Inst Osteol, Vienna, Austria
Hanusch Hosp, Allgemeine Unfahversicherungsanstalt Trauma Ctr M, Med Dept 1, Vienna, Austria NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA

Klaushofer, Klaus
论文数: 0 引用数: 0
h-index: 0
机构:
Hanusch Hosp Wiener Gebietskrankenkasse, Ludwig Boltzmann Inst Osteol, Vienna, Austria
Hanusch Hosp, Allgemeine Unfahversicherungsanstalt Trauma Ctr M, Med Dept 1, Vienna, Austria NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA

Dale, Ryan K.
论文数: 0 引用数: 0
h-index: 0
机构:
NICHHD, Bioinformat & Sci Programming Core, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA

Siegel, Richard M.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, ImmunoreguLat Sect, Autoimmun Branch, NIH, Bethesda, MD 20892 USA
Novartis Inst Biomed Res, Basel, Switzerland NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA

Bhattacharyya, Timothy
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Sect Congenital Disorders, Clin Ctr, Bldg 10, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA

Marini, Joan C.
论文数: 0 引用数: 0
h-index: 0
机构:
NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extraceadar Matri, NIH, Bethesda, MD 20892 USA
[6]
Somatic activating mutations in MAP2K1 cause melorheostosis
[J].
Kang, Heeseog
;
Jha, Smita
;
Deng, Zuoming
;
Fratzl-Zelman, Nadja
;
Cabral, Wayne A.
;
Ivovic, Aleksandra
;
Meylan, Francoise
;
Hanson, Eric P.
;
Lange, Eileen
;
Katz, James
;
Roschger, Paul
;
Klaushofer, Klaus
;
Cowen, Edward W.
;
Siegel, Richard M.
;
Marini, Joan C.
;
Bhattacharyya, Timothy
.
NATURE COMMUNICATIONS,
2018, 9

Kang, Heeseog
论文数: 0 引用数: 0
h-index: 0
机构:
NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA

Jha, Smita
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, Clin & Invest Orthoped Surg Unit, NIH, Bethesda, MD 20892 USA
Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Program Reprod & Adult Endocrinol, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA

Deng, Zuoming
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, Biodata Min & Discovery Sect, Off Sci & Technol, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA

Fratzl-Zelman, Nadja
论文数: 0 引用数: 0
h-index: 0
机构:
Hanusch Hosp WGKK, Ludwig Boltzmann Inst Osteol, Vienna, Austria
Hanusch Hosp, UKH Meidling, AUVA Trauma Ctr Meidling, Med Dept 1, Kundratstr 37, A-1120 Vienna, Austria NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA

Cabral, Wayne A.
论文数: 0 引用数: 0
h-index: 0
机构:
NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA
NHGRI, Mol Genet Sect, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA

Ivovic, Aleksandra
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, Immunoregulat Sect, Autoimmun Branch, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA

Meylan, Francoise
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, Immunoregulat Sect, Autoimmun Branch, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA

Hanson, Eric P.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, Immunodeficiency & Inflammat Unit, Autoimmun Branch, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA

Lange, Eileen
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, Off Clin Director, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA

Katz, James
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, Off Clin Director, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA

Roschger, Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Hanusch Hosp WGKK, Ludwig Boltzmann Inst Osteol, Vienna, Austria
Hanusch Hosp, UKH Meidling, AUVA Trauma Ctr Meidling, Med Dept 1, Kundratstr 37, A-1120 Vienna, Austria NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA

Klaushofer, Klaus
论文数: 0 引用数: 0
h-index: 0
机构:
Hanusch Hosp WGKK, Ludwig Boltzmann Inst Osteol, Vienna, Austria
Hanusch Hosp, UKH Meidling, AUVA Trauma Ctr Meidling, Med Dept 1, Kundratstr 37, A-1120 Vienna, Austria NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA

Cowen, Edward W.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, Dermatol Branch, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA

Siegel, Richard M.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, Immunoregulat Sect, Autoimmun Branch, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA

Marini, Joan C.
论文数: 0 引用数: 0
h-index: 0
机构:
NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA

Bhattacharyya, Timothy
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, Clin & Invest Orthoped Surg Unit, NIH, Bethesda, MD 20892 USA NICHHD, Sect Heritable Disorders Bone & Extracellular Mat, NIH, Bethesda, MD 20892 USA
[7]
Melorheostosis: a Rare Sclerosing Bone Dysplasia
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Kotwal, Anupam
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Clarke, Bart L.
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CURRENT OSTEOPOROSIS REPORTS,
2017, 15 (04)
:335-342

Kotwal, Anupam
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, E18-A,200 1st Street SW, Rochester, MN 55905 USA Mayo Clin, E18-A,200 1st Street SW, Rochester, MN 55905 USA

Clarke, Bart L.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, E18-A,200 1st Street SW, Rochester, MN 55905 USA Mayo Clin, E18-A,200 1st Street SW, Rochester, MN 55905 USA
[8]
Case Report: Severe Melorheostosis Involving the Ipsilateral Extremities
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Long, Hai-Tao
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Li, Kang-Hua
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Zhu, Yong
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CLINICAL ORTHOPAEDICS AND RELATED RESEARCH,
2009, 467 (10)
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Long, Hai-Tao
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Dept Orthopaed, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Orthopaed, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China

Li, Kang-Hua
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Dept Orthopaed, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Orthopaed, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China

Zhu, Yong
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Dept Orthopaed, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Orthopaed, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China
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MELORHEOSTOSIS AND THE SCLEROTOMES - RADIOLOGICAL CORRELATION
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MURRAY, RO
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MCCREDIE, J
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SKELETAL RADIOLOGY,
1979, 4 (02)
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MURRAY, RO
论文数: 0 引用数: 0
h-index: 0
机构:
UNIV SYDNEY,DEPT SURG,SYDNEY 2006,NEW S WALES,AUSTRALIA UNIV SYDNEY,DEPT SURG,SYDNEY 2006,NEW S WALES,AUSTRALIA

MCCREDIE, J
论文数: 0 引用数: 0
h-index: 0
机构:
UNIV SYDNEY,DEPT SURG,SYDNEY 2006,NEW S WALES,AUSTRALIA UNIV SYDNEY,DEPT SURG,SYDNEY 2006,NEW S WALES,AUSTRALIA
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Sencen L., Melorheostosis