Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Laura Vilarinho

Characterization of Novel SLC6A8 Variants With the Use of Splice-Site Analysis Tools and Implementation of a Newly Developed LOVD Database

European Journal of Human Genetics

English

Newborn Screening for Homocystinurias: Recent Recommendations Versus Current Practice

Journal of Inherited Metabolic Disease

English

Identification of a Novel TTC19 Mutation in a Portuguese Family With Complex III Deficiency

Molecular Medicine

Molecular Biology

English

Late-Onset Levodopa Responsive Parkinsonism Due to Polymerase Γ 1 Mutations

Movement Disorders Clinical Practice

English

Iron‐sulfur Cluster ISD11 Deficiency ( LYRM4 Gene) Presenting as Cardiorespiratory Arrest and 3‐methylglutaconic Aciduria

Internal Medicine

Molecular Biology

English

P432 Encephalopathy in Teenagers – A Challenging Etiologic Diagnosis

English

Maternally Inherited Deafness Associated With a T1095C Mutation in the mDNA

European Journal of Human Genetics

English