Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Francesco Nieddu

OL-EDA-ID Syndrome: A Novel Hypomorphic NEMO Mutation Associated With a Severe Clinical Presentation and Transient HLH

Journal of Clinical Immunology

English

Related publications

Atypical Hemolytic-Uremic Syndrome Associated With Antiphospholipid Antibodies and Antiphospholipid Syndrome; A Novel Presentation

Pediatric Rheumatology

English

A Novel NaV1.5 Voltage Sensor Mutation Associated With Severe Atrial and Ventricular Arrhythmias

Journal of Molecular and Cellular Cardiology

Cardiovascular Medicine

Molecular Biology

English

A Novel ROGDI Gene Mutation Is Associated With Kohlschutter-Tonz Syndrome

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

Nuclear Medicine

Forensic Medicine

English

Enterobacter Bugandensis: A Novel Enterobacterial Species Associated With Severe Clinical Infection

Scientific Reports

Multidisciplinary

English

Clinical and Electrophysiological Characterization of a Novel Mutation (F193L) in the KCNQ1 Gene Associated With Long QT Syndrome

Clinical Science

English

IL2RG Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature

Allergy, Asthma and Clinical Immunology

Respiratory Medicine

English

Clinical Resistance Associated With a Novel MAP2K1 Mutation in a Patient With Langerhans Cell Histiocytosis

Pediatric Blood and Cancer

English

A Novel IL2RG Mutation Associated With Maternal T Lymphocyte Engraftment in a Patient With Severe Combined Immunodeficiency

Journal of Human Genetics

English

A Novel Deletion Mutation in KMT2A Identified in a Child With ID/DD and Blood Eosinophilia

BMC Medical Genetics

English