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1-6 of 6 results for spondyloepiphyseal dysplasia congenita

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Retricted accessResearch articleFirst published November, 2003

Cleft Palate Repair in Spondyloepiphyseal Dysplasia Congenita: Minimizing the Risk of Cervical Cord Compression

Christopher E. Tofield, Craig A. Mackinnon

The Cleft Palate Craniofacial Journal

Free accessResearch articleFirst published March, 2000

Spondyloepiphyseal Dysplasia Congenita Associated with Conductive Hearing Loss

Ravinder Dahiya, Sandra Cleveland, Cliff A. Megerian

Ear,Nose & Throat Journal

Retricted accessCase reportFirst published November, 2011

A Case Report of a Patient with Cleft Palate Carrying the Risk of Tetraplegia

Daghan Isik, Savas Guner, Serhat Avcu [...]

The Cleft Palate Craniofacial Journal

Available accessResearch articleFirst published December, 2008

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

Available accessResearch articleFirst published May, 2019

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

Free accessOtherFirst published August, 2007

The diagnosis of art: Achilles Emperaire and spondyloepiphyseal dysplasia congenita

Manoj Ramachandran, Jeffrey K Aronson

Journal of the Royal Society of Medicine

Search results

Articles (6)

Journals (0)

1-6 of 6 results for spondyloepiphyseal dysplasia congenita

Sort by:

Relevance

Select all

Sort by:

Relevance

Retricted accessResearch articleFirst published November, 2003

Cleft Palate Repair in Spondyloepiphyseal Dysplasia Congenita: Minimizing the Risk of Cervical Cord Compression

Christopher E. Tofield, Craig A. Mackinnon

The Cleft Palate Craniofacial Journal

Free accessResearch articleFirst published March, 2000

Spondyloepiphyseal Dysplasia Congenita Associated with Conductive Hearing Loss

Ravinder Dahiya, Sandra Cleveland, Cliff A. Megerian

Ear,Nose & Throat Journal

Retricted accessCase reportFirst published November, 2011

A Case Report of a Patient with Cleft Palate Carrying the Risk of Tetraplegia

Daghan Isik, Savas Guner, Serhat Avcu [...]

The Cleft Palate Craniofacial Journal

Available accessResearch articleFirst published December, 2008

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

Available accessResearch articleFirst published May, 2019

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

Free accessOtherFirst published August, 2007

The diagnosis of art: Achilles Emperaire and spondyloepiphyseal dysplasia congenita

Manoj Ramachandran, Jeffrey K Aronson

Journal of the Royal Society of Medicine