Valentina Ottaviani
Foggia, 71013, Italy
Last Updated: 09/26/2026
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Found 8 publications
Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.
Journal: International journal of molecular sciences
Published: August 11, 2017
A novel MED12 mutation: Evidence for a fourth phenotype.
Journal: American journal of medical genetics. Part A
Published: February 03, 2016
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION.
Journal: Genetic counseling (Geneva, Switzerland)
Published: December 03, 2015
2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment.
Journal: Blood
Published: April 01, 2015
DPP6 gene disruption in a family with Gilles de la Tourette syndrome.
Journal: Neurogenetics
Published: April 16, 2014
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.
Journal: American journal of medical genetics. Part A
Published: January 22, 2014
Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?
Journal: Molecular syndromology
Published: September 02, 2012
Xq12-q13.3 duplication: evidence of a recurrent syndrome.
Journal: Annals of neurology
Published: August 01, 2012
Showing 1-8 of 8
Last Updated: 09/26/2026