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Publications by Marta De Rinaldis

Mild Epileptic Phenotype Associates With De Novo Eef1a2 Mutation: Case Report and Review

Brain and Development

Developmental Neuroscience

English

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De Novo VHL Germline Mutation Detected in a Patient With Mild Clinical Phenotype of Von Hippel-Lindau Disease

Journal of Neurosurgery

English

Case Report: Adult Onset Diabetes With Partial Pancreatic Agenesis and Congenital Heart Disease Due to a De Novo GATA6 Mutation

BMC Medical Genetics

English

Methionine-Dependence Phenotype in the De Novo Pathway in BRCA1 and BRCA2 Mutation Carriers With and Without Breast Cancer

Cancer Epidemiology Biomarkers and Prevention

English

A De Novo Insertion, Detected Prenatally, With Normal Phenotype.

Journal of Medical Genetics

English

Complex Epileptic Palilalia: A Case Report

Seizure : the journal of the British Epilepsy Association

English

ADA2 Deficiency: Case Report of a New Phenotype and Novel Mutation in Two Sisters

English

Systematic Review of Kabuki Syndrome’s Phenotype With KMT2D Gene Mutation

Revista Intertox de Toxicologia, Risco Ambiental e Sociedade

English

a Novel, De Novo Mutation in the PRKAG2 Gene: Infantile-Onset Phenotype and the Signaling Pathway Involved

American Journal of Physiology - Heart and Circulatory Physiology

Cardiovascular Medicine

English

Orbital Metastases From Breast Cancer With BRCA2 Mutation: A Case Report and Literature Review

Case Reports in Oncology

English