Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Gustav Y Cederquist

Phenotypic Spectrum of the Tubulin-Related Disorders and Functional Implications of Disease-Causing Mutations

Current Opinion in Genetics and Development

Developmental Biology

English

Related publications

Novel Variants and Phenotypes Widen the Phenotypic Spectrum of GABRG2-related Disorders

Seizure : the journal of the British Epilepsy Association

English

Disease-Causing Missense Mutations in Human DNA Helicase Disorders

Mutation Research - Reviews in Mutation Research

English

KCNC1 ‐related Disorders: New De Novo Variants Expand the Phenotypic Spectrum

Annals of Clinical and Translational Neurology

English

Investigating Functional Consequences of Novel Disease-Causing Mutations of CLCN7 Gene

Biophysical Journal

English

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease-Causing Point Mutations

American Journal of Human Genetics

English

Disease-Causing Mutations in Genes of the Complement System

American Journal of Human Genetics

English

A Comprehensive Functional Analysis of PTEN Mutations: Implications in Tumor- And Autism-Related Syndromes

Human Molecular Genetics

Molecular Biology

English

Disease-Causing Mutations in Proteins: Structural Analysis of the CYP1b1 Mutations Causing Primary Congenital Glaucoma in Humans

Biophysical Journal

English

Clinical Spectrum of STX1B-related Epileptic Disorders

English