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1-3 of 3 results for hypochondrogenesis

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Select article: Hypochondrogenesis: A Rare Lethal Skeletal Dysplasia

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Research article

First published 2001-11

Hypochondrogenesis: A Rare Lethal Skeletal Dysplasia

Jean M. Pantaleo, Marveen Craig, Donald M. Ehman

Journal of Diagnostic Medical Sonography

Select article: A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita

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Research article

First published 2019-05

A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita

Ahmad Almatrafi, Fatima Alfadhli, Yasir Naseem Khan [...]

Genetic Testing and Molecular Biomarkers

Select article: Rapid Molecular Prenatal Diagnosis of Spondyloepiphyseal Dysplasia Congenita by PCR-SSP Assay

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Research article

First published 2008-12

Rapid Molecular Prenatal Diagnosis of Spondyloepiphyseal Dysplasia Congenita by PCR-SSP Assay

Ying-Xia Cui, Xin-Yi Xia, Ying Bu [...]

Genetic Testing and Molecular Biomarkers

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