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Publications by I Dianzani
Rapp-Hodgkin and AEC Syndromes Due to a New Frameshift Mutation in the TP63 Gene
Journal of Medical Genetics
Genetics
Related publications
Liddle’s Syndrome in an African Male Due to a Novel Frameshift Mutation in the Beta-Subunit of the Epithelial Sodium Channel Gene
Cardiovascular Journal of Africa
Medicine
Cardiovascular Medicine
Cardiology
Frameshift Mutation
A Novel Frameshift Mutation in the XPC Gene in a Moroccan Patient: A Case Report
Journal of Medical Case Reports
Medicine
Complete Androgen Insensitivity Syndrome Due to a New Frameshift Deletion in Exon 4 of the Androgen Receptor Gene: Functional Analysis of the Mutant Receptor
Molecular and Cellular Endocrinology
Biochemistry
Endocrinology
Molecular Biology
Congenital Central Hypothyroidism Due to a Homozygous Mutation in theTSHβSubunit Gene
Case Reports in Pediatrics
Congenital Myasthenic Syndrome Due to Mutation in CHRNE Gene
Child Neurology
Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene
American Journal of Human Genetics
Genetics
Suppression of a Frameshift Mutation in the recE Gene of Escherichia Coli K-12 Occurs by Gene Fusion.
Journal of Bacteriology
Microbiology
Molecular Biology
A Familial Case of Nevoid Basal Cell Carcinoma Syndrome With a Frameshift Mutation in the PTCH1 Gene
Japanese Journal of Oral and Maxillofacial Surgery