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Publications by Guglielmina Pepe
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
Related publications
Moderately Progressive Ullrich Congenital Muscular Dystrophy
Jornal de Pediatria
Child Health
Pediatrics
Perinatology
Nonsense-Mediated mRNA Decay
Biochemical Society Transactions
Biochemistry
A Novel POMT2 Mutation Causes Mild Congenital Muscular Dystrophy With Normal Brain MRI
Brain and Development
Child Health
Developmental Neuroscience
Perinatology
Neurology
Medicine
Pediatrics
Nonsense-Mediated Decay Enables Intron Gain in Drosophila
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family
JCRPE Journal of Clinical Research in Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Intracellular Calcium Regulates Nonsense-Mediated mRNA Decay
Nature Medicine
Biochemistry
Medicine
Genetics
Molecular Biology
A Cystic Fibrosis Patient Homozygous for the Nonsense Mutation R553X.
Journal of Medical Genetics
Genetics
Nutritional Status Evaluation in Patients Affected by Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy
Frontiers in Aging Neuroscience
Aging
Cognitive Neuroscience
Targeting Nonsense-Mediated mRNA Decay in Colorectal Cancers With Microsatellite Instability
Oncogenesis
Cancer Research
Molecular Biology
