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Martina Servetti
Martina Servetti
University of Genoa
Missense mutation
Intellectual disability
Genetics
Biology
Gene
3
Papers
12
Citations
0
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Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.
2021
Frontiers in Genetics
Martina Servetti
Livia Pisciotta
Elisa Tassano
Maria Cerminara
Lino Nobili
Silvia Boeri
Giulia Rosti
Margherita Lerone
Maria Teresa Divizia
Patrizia Ronchetto
Aldamaria Puliti
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Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.
2021
Frontiers in Genetics
Maria Cerminara
Giovanni Spirito
Livia Pisciotta
Margherita Squillario
Martina Servetti
Maria Teresa Divizia
Margherita Lerone
Bianca Berloco
Silvia Boeri
Lino Nobili
Diego Vozzi
Remo Sanges
Stefano Gustincich
Aldamaria Puliti
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Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability
2018
European Journal of Medical Genetics
Giulia Rosti
Elisa Tassano
Simone Bossi
Maria Teresa Divizia
Patrizia Ronchetto
Martina Servetti
Margherita Lerone
Livia Pisciotta
Maria Margherita Mancardi
Edvige Veneselli
Aldamaria Puliti
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Citations (10)
1