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Publications by G M S Mancini

COL4A1 Mutation: Expansion of the Phenotype

Pediatric Research

English

Related publications

Phenotype and Mutation Expansion of the PTPN23 Associated Disorder Characterized by Neurodevelopmental Delay and Structural Brain Abnormalities

European Journal of Human Genetics

English

HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease

Journal of the American Society of Nephrology : JASN

English

A Novel COL4A1 Mutation in a Neonate With Intrauterine Intraventricular Hemorrhage and Porencephaly

Neonatal Medicine

English

HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations Due to a Primary Vascular Defect

American Journal of Pathology

Forensic Medicine

English

HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1−/− Mice

American Journal of Human Genetics

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Stereocilin Gene Variants Associated With Episodic Vertigo: Expansion of the DFNB16 Phenotype

European Journal of Human Genetics

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Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases

BioMed Research International

Molecular Biology

English

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

Revista Intertox de Toxicologia, Risco Ambiental e Sociedade

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New Ocular Phenotype Associated With a Mutation in the PAX2 Gene

Sensory Systems

English