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Last Updated: 03/06/2025
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Found 78 publications
The role of persistent right umbilical vein in the diagnosis of fetal genetic syndromes.
Journal: The journal of obstetrics and gynaecology research
Published: August 08, 2024
Potocki-Lupski Syndrome in Ethiopian Child: A Case Report.
Journal: Pediatric health, medicine and therapeutics
Published: December 12, 2023
Dental findings and intravenous sedation in a patient with Potocki-Lupski syndrome: A case report.
Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
Published: September 29, 2023
Does the Potocki-Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review.
Journal: Journal of personalized medicine
Published: December 28, 2022
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.
Journal: European journal of human genetics : EJHG
Published: November 29, 2021
Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances.
Journal: Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
Published: October 26, 2021
Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith-Magenis and Potocki-Lupski Syndromes in Fetuses.
Journal: Frontiers in genetics
Published: September 18, 2021
Anesthesia in a Patient with Potocki-Lupski Syndrome.
Journal: Case reports in anesthesiology
Published: May 24, 2021
Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings.
Journal: BMC medical genomics
Published: April 29, 2021
Case Report: Potocki-Lupski Syndrome in Five Siblings.
Journal: Frontiers in pediatrics
Published: April 21, 2021
Derivation of induced pluripotent stem cells from one child suffering Potocki-Lupski syndrome.
Journal: Stem cell research
Published: January 06, 2021
Last Updated: 03/06/2025