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Publications by Per Bengtson

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

European Journal of Human Genetics

English

Microbial Regulation of Global Biogeochemical Cycles

Frontiers in Microbiology

English

Related publications

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