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Publications by S.M. de Souza

Prevalence of deltaF508, G551D, G542X, and R553X Mutations Among Cystic Fibrosis Patients in the North of Brazil

Brazilian Journal of Medical and Biological Research

English

Related publications

Genotype/Phenotype Association in Cystic Fibrosis: Analyses of the ΔF508, R553X, and 3905insT Mutations

Pediatric Research

English

A Cystic Fibrosis Patient Homozygous for the Nonsense Mutation R553X.

Journal of Medical Genetics

English

Cystic Fibrosis: The Urgent Need to Report on Mutations Among Patients of African Descent

South African Respiratory Journal

English

Prevalence and Severity of Dysphonia in Patients With Cystic Fibrosis

Otolaryngology - Head and Neck Surgery

Otorhinolaryngology

English

Prevalence of Pelvic Incontinence in Patients With Cystic Fibrosis

Global Pediatric Health

English

Relative Frequencies of Three Cystic Fibrosis Mutations in North Jordan; “F508, W1282X, and N1303K

International Journal of Human Genetics

English

Ivacaftor and Sinonasal Pathology in a Cystic Fibrosis Patient With Genotype deltaF508/S1215N

Journal of Cystic Fibrosis

Respiratory Medicine

English

CFTR Mutations Spectrum and the Efficiency of Molecular Diagnostics in Polish Cystic Fibrosis Patients

Multidisciplinary

English

Prevalence and Mechanisms of Gastro-Oesophageal Reflux in Adult Cystic Fibrosis Patients

Journal of the Royal Society of Medicine

English