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Publications by Josep Oriola

Patient With iDEND Syndrome–Related Mutation

Internal Medicine

Specialized Nursing

English

Renin-Angiotensin System Genetic Polymorphisms and Salt Sensitivity in Essential Hypertension

Internal Medicine

English

Related publications

Factor I Mutation in Tunisian Patient With Atypical Hemolytic Uremic Syndrome

African Journal of Pharmacy and Pharmacology

English

Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome With a Homozygous Null Mutation

Canadian Journal of Neurological Sciences

English

Water Intake Disorder in a DEND Syndrome Afflicted Patient With R50P Mutation

Endocrine Journal

English

The Phenomenon of Reverse Mutation in a Patient With Wiskott–Aldrich Syndrome

Pediatric Hematology/Oncology and Immunopathology

English

KID Syndrome: Report of a Scandinavian Patient With Connexin‐26 Gene Mutation

Acta Dermato-Venereologica

English

A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome

Human Genome Variation

Molecular Biology

English

Mutation in Exon 13 of the TCOF1 Gene in Patient With Treacher Collins Syndrome

Acta Fytotechnica et Zootechnica

English

Synchronous Bilateral Breast Carcinoma in a Patient With Cowden Syndrome With PTEN Mutation: A Case Report

Journal of Breast Disease

English

Noonan Syndrome: Comparing Mutation-Positive With Mutation-Negative Dutch Patients

Molecular Syndromology

English