Discover open access scientific publications

Search, annotate, share and cite publications

Publications by M Kambouris

P02-006 - A Novel PSTPIP1 Mutation in PAPA Syndrome

Pediatric Rheumatology

English

Related publications

Impaired Podosome Formation and Invasive Migration of Macrophages From Patients With a PSTPIP1 Mutation and PAPA Syndrome

Arthritis & Rheumatism

English

PW02-006 - PAPA Syndrome Clinical Spectrum and IL1B Release

Pediatric Rheumatology

English

P02-018 - PSTPIP1 Gene Mutations in Periodic Fever Patients

Pediatric Rheumatology

English

The Expanding Spectrum of Clinical Phenotypes Associated With PSTPIP1 Mutations: From PAPA to PAMI Syndrome and Beyond

British Journal of Dermatology

English

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

Frontiers in Pediatrics

English

Novel Mutation in KCNQ2 Causing Ohtahara Syndrome

Annals of Child Neurology

English

A Novel FBN1 Mutation Causes Autosomal Dominant Marfan Syndrome

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

A Novel C.676_677insG PHOX2B Mutation in Congenital Central Hypoventilation Syndrome

Journal of Clinical Sleep Medicine

Respiratory Medicine

English

A Novel Gene Mutation in Berardinelli Seip Syndrome: Three Case Reports

Endocrine Abstracts

English