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Publications by Vanna Pecile

De Novo Unbalanced Translocations Have a Complex History/Aetiology

Human Genetics
Genetics
2018English

TRAPPC9-related Autosomal Recessive Intellectual Disability: Report of a New Mutation and Clinical Phenotype

European Journal of Human Genetics
Genetics
2012English

Could a Chimeric Condition Be Responsible for Unexpected Genetic Syndromes? The Role of the Single Nucleotide Polymorphism-Array Analysis

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

Testing Single/Combined Clinical Categories on 5110 Italian Patients With Developmental Phenotypes to Improve Array-Based Detection Rate

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

Clinical and Molecular Cytogenetic Characterisation of Children With Developmental Delay and Dysmorphic Features / Klinična in Molekularna Citogenetska Obravnava Otrok Z Razvojnim Zaostankom in Displastičnimi Znaki

Zdravstveno Varstvo
EnvironmentalPublic HealthOccupational Health
2015English

Opitz Trigonocephaly Syndrome Presenting With Sudden Unexplained Death in the Operating Room: A Case Report

Journal of Medical Case Reports
Medicine
2011English

Chromosome Instability and Nibrin Protein Variants in NBS Heterozygotes

European Journal of Human Genetics
Genetics
2003English

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