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Samantha E. Parker et al.
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K. Méhes et al.
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Ashish Dhir et al.
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Developmental expression of bone sialoprotein mRNA in rat mineralized connective tissues
Jinkun Chen et al.
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L. Garavelli et al.
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Heng Li et al.
BIOINFORMATICS (2009)
De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia
Smita M. Purandare et al.
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Yunis-Varon syndrome: Further delineation of the phenotype
Lina Basel-Vanagaite et al.
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Aneal Khan et al.
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Cleidocranial dysplasia: Molecular genetic analysis and phenotypic-based description of a middle European patient group
U Baumert et al.
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R Mendoza-Londono et al.
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Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation
D Napierala et al.
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CMF608 - a novel mechanical strain-induced bone-specific protein expressed in early osteochondroprogenitor cells
O Segev et al.
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RJ Midura et al.
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DJ Zand et al.
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Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2
S Garcia-Minaur et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2003)
Mutations in the RUNX2 gene in patients with clelidocranial dysplasia
F Otto et al.
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