Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Norma Vazquez
Exonic Mutations in the SLC12A3 Gene Cause Exon Skipping and Premature Termination in Gitelman Syndrome
Journal of the American Society of Nephrology : JASN
Medicine
Nephrology
Related publications
Mutations in the Telomerase Component NHP2 Cause the Premature Ageing Syndrome Dyskeratosis Congenita
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Mutations in the Human TBX4 Gene Cause Small Patella Syndrome
American Journal of Human Genetics
Genetics
Mutations Producing Premature Termination of Translation and an Amino Acid Substitution in the Sterol 27-Hydroxylase Gene Cause Cerebrotendinous Xanthomatosis Associated With Parkinsonism
Journal of Neurology, Neurosurgery and Psychiatry
Psychiatry
Mental Health
Neurology
Surgery
A Rare Cause of Rhabdomyolysis: Gitelman Syndrome
International Journal of Case Reports and Images
Personalized Exon Skipping Strategies to Address Clustered Non-Deletion Dystrophin Mutations
Neuromuscular Disorders
Child Health
Neurology
Pediatrics
Perinatology
Genetics
Deletion of a Branch-Point Consensus Sequence in the LMX1B Gene Causes Exon Skipping in a Family With Nail Patella Syndrome
European Journal of Human Genetics
Genetics
Gitelman Syndrome
Hypertension
Internal Medicine
Premature Termination Codon Mutations in the Von Willebrand Factor Gene Are Associated With Allele-Specific and Position-Dependent mRNA Decay
Haematologica
Hematology
Mutations in the FKRP Gene Can Cause Muscle-Eye-Brain Disease and Walker-Warburg Syndrome
Journal of Medical Genetics
Genetics
