Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Clare Beesley

Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein

American Journal of Medical Genetics, Part A

English

Related publications

Molecular Analysis of Mucopolysaccharidosis Type I in Tunisia: Identification of Novel Mutation and Eight Novel Polymorphisms

Diagnostic Pathology

Forensic Medicine

English

Analysis of Mucopolysaccharidosis Type VI Through Integrative Functional Metabolomics

International Journal of Molecular Sciences

Organic Chemistry

Molecular Biology

Theoretical Chemistry

Inorganic Chemistry

Computer Science Applications

English

A Comparative Study of Myasthenic Patients in the Czech and Slovak Republics

Ceska a Slovenska Neurologie a Neurochirurgie

English

No Effect of the Prothrombin G20210A Mutation on Protein C Activation in a Large Kindred With Type I Protein C Deficiency

Blood Coagulation and Fibrinolysis

English

Sexual Behaviour in a Murine Model of Mucopolysaccharidosis Type I (MPS I)

Multidisciplinary

English

Czech and Slovak Bilingualism in the Media

Media. Biznes. Kultura

English

17th Czech-Slovak-Polish Palaeontological Conference October 20–21, 2016, Kraków, Poland

Geological Quarterly

English

Evidence of a Progressive Motor Dysfunction in Mucopolysaccharidosis Type I Mice

Behavioural Brain Research

Behavioral Neuroscience

English

Does the Timing of Treatment Affect the Ocular Phenotype in Patients With Mucopolysaccharidosis I Homozygous for the L490P Mutation?

Sensory Systems

English