Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Valentina Zampiga
Coexistence of Two Novel Mutations in CDKN2A and PMS1 Genes in a Single Patient Identifies a New and Severe Cancer Predisposition Syndrome
Oncomedicine
Related publications
Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient With Alagille Syndrome
Case Reports in Pediatrics
Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients With Pancreatic Cancer
Gastroenterology
Hepatology
Gastroenterology
Germline Mutations in Cancer-Predisposition Genes in Patients With Biliary Tract Cancer
Oncotarget
Oncology
Clinical Exome Sequencing Identifies Two Novel Mutations of the SCN1A and SCN2A Genes in Moroccan Patients With Epilepsy: A Case Series
Journal of Medical Case Reports
Medicine
Novel and Heteroplasmic Mutations in Mitochondrial tRNA Genes in Brugada Syndrome
Cardiology Journal
Medicine
Cardiovascular Medicine
Cardiology
Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome
Neuropediatrics
Medicine
Child Health
Neurology
Pediatrics
Perinatology
Two Novel Mutations in the SLC25A4 Gene in a Patient With Mitochondrial Myopathy
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Two Novel NPHS1 Mutations in a Chinese Family With Congenital Nephrotic Syndrome
Genetics and Molecular Research
Medicine
Genetics
Molecular Biology
Genome Wide Association Study Identifies Novel Single Nucleotide Polymorphic Loci and Candidate Genes Involved in Soybean Sudden Death Syndrome Resistance
PLoS ONE
Multidisciplinary
