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Publications by Margareta Albåge

A Novel Phenotype in N-Glycosylation Disorders: Gillessen-Kaesbach–Nishimura Skeletal Dysplasia Due to Pathogenic Variants in ALG9

European Journal of Human Genetics

English

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Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

American Journal of Human Genetics

English

Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

American Journal of Human Genetics

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 New Case of SMA Phenotype Without Epilepsy Due to Biallelic Variants in ASAH1

European Journal of Human Genetics

English

Congenital Disorders of Glycosylation. Part I. Defects of Protein N-Glycosylation.

Acta Biochimica Polonica

Molecular Biology

English

Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis

Frontiers in Genetics

Molecular Medicine

English

Modeling Congenital Disorders of N-Linked Glycoprotein Glycosylation in Drosophila Melanogaster

Frontiers in Genetics

Molecular Medicine

English

Mutations in MAGT1 Lead to a Glycosylation Disorder With a Variable Phenotype

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

A Combined in Silico, in Vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa

Frontiers in Genetics

Molecular Medicine

English