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Publications by Ludovica Volpi
An Unusual Mutation in RECQ4 Gene Leading to Rothmund–Thomson Syndrome
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
Mutagenesis
Toxicology
Health
Molecular Biology
Genetics
Related publications
Rothmund-Thomson Syndrome
Clinical Utility Gene Card For: Rothmund–Thomson Syndrome
European Journal of Human Genetics
Genetics
Leg Ulcer in a Patient With Rothmund–Thomson Syndrome
SpringerPlus
Multidisciplinary
Ciprofloxacin Exposure Leading to Fatal Hepatotoxicity: An Unusual Correlation
American Journal of Case Reports
Medicine
Congenital Myasthenic Syndrome Due to Mutation in CHRNE Gene
Child Neurology
Cardiac Paraganglioma Arising From the Right Atrioventricular Groove in a Paraganglioma-Pheochromocytoma Family Syndrome With Evidence of SDHB Gene Mutation: An Unusual Presentation
Annals of Thoracic Surgery
Respiratory Medicine
Pulmonary
Cardiovascular Medicine
Surgery
Cardiology
An Unusual Cause for Nephrotic Syndrome: Nephrotic Syndrome Due to Metformin
Turkish Nephrology, Dialysis and Transplantation Journal
Surgery
Urology
Whole Exome Sequencing Identifies a New Mutation in the SLC19A2 Gene Leading to Thiamine‐responsive Megaloblastic Anemia in an Egyptian Family
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Lemierre's Syndrome: An Unusual Presentation
The Internet Journal of Otorhinolaryngology
