Margherita C. Silengo
Turin, Italy
Last Updated: 09/26/2026
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Found 24 publications
Ground deformation reveals the scale-invariant conduit dynamics driving explosive basaltic eruptions.
Journal: Nature communications
Published: July 23, 2020
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 07, 2017
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: December 17, 2016
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 27, 2016
Prevention and management of hearing loss in syndromic craniosynostosis: A case series.
Journal: International journal of pediatric otorhinolaryngology
Published: December 31, 2015
Fetal growth patterns in Beckwith-Wiedemann syndrome.
Journal: Clinical genetics
Published: December 01, 2015
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.
Journal: Molecular cytogenetics
Published: August 19, 2014
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion.
Journal: Molecular cytogenetics
Published: February 18, 2014
Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.
Journal: American journal of medical genetics. Part A
Published: December 17, 2013
α-Fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes.
Journal: Pediatric research
Published: November 16, 2013
Last Updated: 09/26/2026