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Maria Luce Genovesi

Sapienza University of Rome

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Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.

2020 Molecular Genetics & Genomic Medicine
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Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation

2019 Molecular Genetics & Genomic Medicine
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Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies

2018 Archives of Oral Biology
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