Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Federica Frasca
A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature
Frontiers in Immunology
Allergy
Immunology
Related publications
A Novel Homozygous Frame-Shift Mutation in the SLC29A3 Gene: A New Case Report and Review of Literature
BMC Medical Genetics
Genetics
Identification of a Novel Splicing Mutation in the SLC25A13 Gene From a Patient With NICCD: A Case Report
BMC Pediatrics
Child Health
Pediatrics
Perinatology
A Novel Frameshift Mutation in the XPC Gene in a Moroccan Patient: A Case Report
Journal of Medical Case Reports
Medicine
A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1
Annals of Pediatric Endocrinology and Metabolism
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
A Case of Perinatal Hypophosphatasia With a Novel Mutation in the ALPL Gene: Clinical Course and Review of the Literature
Clinical Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Rare Case of Behcet’s Disease in an African Patient: A Case Report and Review of the Literature
Our Dermatology Online
Sinonasal Alveolar Rhabdomyosarcoma in an Adult Patient: A Case Report and Review of the Literature
Cancer therapy & Oncology International Journal
Pilomyxoid Astrocytoma in an Elderly Patient: A Case Report and Review of Literature
Neurology India
Neurology
Homozygous R396H Mutation of the RAG1 Gene in a Saudi Infant With Omenn's Syndrome: A Case Report
Cases Journal