Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Ian Hopkinson

New Alström Syndrome Phenotypes Based on the Evaluation of 182 Cases

Archives of Internal Medicine

English

Related publications

H Syndrome With Possible New Phenotypes

JAAD Case Reports

English

Clinical Utility Gene Card For: Alström Syndrome

European Journal of Human Genetics

English

Differences in the Clinical Spectrum of Two Adolescent Male Patients With Alström Syndrome

Clinical Dysmorphology

Forensic Medicine

English

Orphan Designation: 3-Pentylbenzeneacetic Acid Sodium Salt, Treatment of Alström Syndrome

Case Medical Research

English

Smith-Magenis Syndrome: A New Contiguous Gene Syndrome. Report of Three New Cases.

Journal of Medical Genetics

English

Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome

Pediatric Cardiology

Cardiovascular Medicine

English

The Alström Syndrome Protein, ALMS1, Interacts With Α-Actinin and Components of the Endosome Recycling Pathway

Multidisciplinary

English

Laron Syndrome 5 Cases. Clinical and Molecular Evaluation

Journal of Dr Behcet Uz Children s Hospital

English

Neuropsychological and Phonological Evaluation in the Apert's Syndrome: Study of Two Cases

Arquivos de Neuro-Psiquiatria

Biological Psychiatry

English