Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by R Slomski
CFTR Transcripts Are Undetectable in Lymphocytes and Respiratory Epithelial Cells of a CF Patient Homozygous for the Nonsense Mutation R553X.
Journal of Medical Genetics
Genetics
Related publications
A Cystic Fibrosis Patient Homozygous for the Nonsense Mutation R553X.
Journal of Medical Genetics
Genetics
Severe Cystic Fibrosis in a Child Homozygous for the G542 Nonsense Mutation in the CFTR Gene.
Journal of Medical Genetics
Genetics
Nine Cystic Fibrosis Patients Homozygous for the CFTR Nonsense Mutation R1162X Have Mild or Moderate Lung Disease.
Journal of Medical Genetics
Genetics
Brushed Nasal Epithelial Cells Are a Surrogate for Bronchial Epithelial CFTR Studies
JCI insight
Medicine
Aortic Xanthomatosis With Coronary Ostial Occlusion in a Child Homozygous for a Nonsense Mutation in ABCG8
Circulation
Cardiovascular Medicine
Physiology
Cardiology
Nonsense Suppression Induced Readthrough of a Novel PAX6 Mutation in Patient‐derived Cells of Congenital Aniridia
Molecular genetics & genomic medicine
Genetics
Molecular Biology
A Homozygous COL6A2 Intron Mutation Causes In-Frame Triple-Helical Deletion and Nonsense-Mediated mRNA Decay in a Patient With Ullrich Congenital Muscular Dystrophy
Human Genetics
Genetics
Spontaneous Thrombosis in a Patient With Factor XI Deficiency Homozygous for the p.Cys398Tyr Mutation
Cumhuriyet Medical Journal
Medicine
Novel Homozygous GBA2 Mutation in a Patient With Complicated Spastic Paraplegia
Clinical Neurology and Neurosurgery
Medicine
Surgery
Neurology
