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Publications by Orsetta Zuffardi

De Novo Unbalanced Translocations Have a Complex History/Aetiology

Human Genetics
Genetics
2018English

Mutations in SOX17 Are Associated With Congenital Anomalies of the Kidney and the Urinary Tract

Human Mutation
Genetics
2010English

Improving Molecular Diagnosis in Epilepsy by a Dedicated High-Throughput Sequencing Platform

European Journal of Human Genetics
Genetics
2014English

A Wide Methodological Approach to Identify a Large Duplication in CFTR Gene in a CF Patient Uncharacterised by Sequencing Analysis

Journal of Cystic Fibrosis
Child HealthPulmonaryPediatricsPerinatologyRespiratory Medicine
2011English

McT8 Deficiency

Journal of Child Neurology
Child HealthNeurologyPediatricsPerinatology
2012English

Infantile Spasms Is Associated With Deletion of the MAGI2 Gene on Chromosome 7q11.23-Q21.11

American Journal of Human Genetics
Genetics
2008English

Evidence for Interaction Between Human PRUNE and Nm23-H1 NDPKinase

Oncogene
Cancer ResearchGeneticsMolecular Biology
1999English

Opposite Deletions/Duplications of the X Chromosome: Two Novel Reciprocal Rearrangements

European Journal of Human Genetics
Genetics
2000English

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