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Publications by G R Mortier

Acrocapitofemoral Dysplasia: An Autosomal Recessive Skeletal Dysplasia With Cone Shaped Epiphyses in the Hands and Hips

Journal of Medical Genetics

English

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Acrocapitofemoral Dysplasia

English

Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

American Journal of Human Genetics

English

Impaired PIEZO1 Function in Patients With a Novel Autosomal Recessive Congenital Lymphatic Dysplasia

Nature Communications

Molecular Biology

English

P71 Skeletal Dysplasia- Case Report of an Infant With Thanatophoric Dysplasia

English

Situs Inversus Totalis, Renal and Pancreatic Dysplasia, and Cysts as an Autosomal Recessive New Entity?

Genetics in Medicine

English

The Bone Dysplasia Ontology: Integrating Genotype and Phenotype Information in the Skeletal Dysplasia Domain

BMC Bioinformatics

Applied Mathematics

Computer Science Applications

Structural Biology

Molecular Biology

English

A Homozygous Missense Mutation in SLC25A16 Is Associated With Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family

British Journal of Dermatology

English

Acrodysostosis - A Rare Skeletal Dysplasia

Journal of Evolution of Medical and Dental sciences

English

Statin Therapy for Skeletal Dysplasia

Nature Reviews Endocrinology

English