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Publications by Mary E M Porteous

Parietal Foramina With Cleidocranial Dysplasia Is Caused by Mutation in MSX2

European Journal of Human Genetics

English

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Mutation Analysis of Core Binding Factor A1 in Patients With Cleidocranial Dysplasia

American Journal of Human Genetics

English

CBCT Findings in Cleidocranial Dysplasia

Scholars Journal of Dental Sciences

English

Parietal Foramina in the Saethre-Chotzen Syndrome.

Journal of Medical Genetics

English

Cleidocranial Dysplasia Accompanied With Pseudohypoparathyroidism I: Case Report.

Japanese Journal of Oral & Maxillofacial Surgery

English

Diagnosis of Cleidocranial Dysplasia in Routine Chest Radiograph

Cardiovascular Medicine

English

A 13-Year-Old Caucasian Boy With Cleidocranial Dysplasia: A Case Report

BMC Research Notes

Molecular Biology

English

Beta Zero Thalassemia in Sardinia Is Caused by a Nonsense Mutation.

Journal of Clinical Investigation

English

Keratoendotheliitis Fugax Hereditaria Is Caused by a Mutation in the NLRP3 Gene

Acta Ophthalmologica

English

The ‘Chef’s Hat’ Appearance of the Femoral Head in Cleidocranial Dysplasia

The Journal of Bone and Joint Surgery. British volume

English