Valeria Orlando
Rome, Italy
Last Updated: 09/26/2026
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Found 24 publications
3-M syndrome: evolution of the phenotype over time.
Journal: Italian journal of pediatrics
Published: July 18, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.
Journal: European journal of human genetics : EJHG
Published: May 01, 2025
Uniparental isodisomy of chromosome 1 involving NPHS2 in steroid-resistant nephrotic syndrome with renal failure.
Journal: European journal of medical genetics
Published: March 07, 2025
Case report: Clinical and genetic features of pediatric choroidal melanoma.
Journal: Frontiers in medicine
Published: August 13, 2024
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 20, 2024
Acute Ophthalmoplegia with Wernicke-Like MRI Pattern in a Patient with HPDL-Related Disorder.
Journal: Movement disorders clinical practice
Published: January 23, 2024
Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.
Journal: Human genomics
Published: August 26, 2023
Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2.
Journal: Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC
Published: May 03, 2023
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
Journal: International journal of molecular sciences
Published: September 01, 2022
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.
Journal: American journal of medical genetics. Part A
Published: September 17, 2021
1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review.
Journal: Journal of cardiovascular development and disease
Published: August 30, 2021
Last Updated: 09/26/2026