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Publications by N. Anastasio

Combined Malonic and Methylmalonic Aciduria: Exome Sequencing Reveals Mutations in the ACSF3 Gene in Patients With a Non-Classic Phenotype

Journal of Medical Genetics

English

Related publications

Adult-Onset Combined Methylmalonic Aciduria and Homocystinuria (cblC)

English

Cloning and Expression of Mutations Demonstrating Intragenic Complementation in Mut0 Methylmalonic Aciduria.

Journal of Clinical Investigation

English

Methylmalonic Aciduria and Vitamin B12 Deficiency in the Rat

Journal of Nutritional Science and Vitaminology

English

Prospective Evaluation of Pregnancy Outcome in an Italian Woman With Late-Onset Combined Homocystinuria and Methylmalonic Aciduria

BMC Pregnancy and Childbirth

English

Homocystinuria Without Methylmalonic Aciduria

English

Whole-Exome Sequencing Reveals Frequent Mutations in Chromatin Remodeling Genes in Mammary and Extramammary Paget’s Diseases

Journal of Investigative Dermatology

Molecular Biology

English

Next Generation Sequencing in Synovial Sarcoma Reveals Novel Gene Mutations

English

Exome Sequencing Identified New Mutations in a Marfan Syndrome Family

Diagnostic Pathology

Forensic Medicine

English

Identification of Novel EXT Mutations in Patients With Hereditary Multiple Exostoses Using Whole-Exome Sequencing

Orthopaedic surgery

Sports Medicine

English