Nikoletta Selenti
St. Sophia's Children's Hospital
Athens, ESYE31 11527, Greece
Athens, ESYE31 11527, Greece
Last Updated: 09/26/2026
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Found 8 publications
A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.
Journal: International journal of molecular sciences
Published: October 01, 2025
Insights into Fanconi Anemia Based on Molecular and Clinical Characteristics: A Multicentre Study of 13 Patients.
Journal: Children (Basel, Switzerland)
Published: May 22, 2025
Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype.
Journal: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
Published: December 28, 2020
Bone Marrow Failure in Fanconi Anemia: Clinical and Genetic Spectrum in a Cohort of 20 Pediatric Patients.
Journal: Journal of pediatric hematology/oncology
Published: July 02, 2019
Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.
Journal: Molecular cytogenetics
Published: August 21, 2015
An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.
Journal: Molecular cytogenetics
Published: April 30, 2015
Investigation of FANCA mutations in Greek patients.
Journal: Anticancer research
Published: July 31, 2013
Showing 1-8 of 8
Last Updated: 09/26/2026