Showing results (21-30 of 52) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|June 25, 2010
De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literatureSophia Kitsiou-Tzeli, Maria Tzetis, Christalena Sofocleous, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|April 19, 2012
Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetusSophia Kitsiou-Tzeli, Anastasia Konstantinidou, Christalena Sofocleous, et al.
Pediatric Research|March 19, 2005
Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek populationStella Amenta, Christalena Sofocleous, Angeliki Kolialexi, et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology|December 28, 2020
Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotypeElisavet Kouvidi, Sophia Zachaki, Nikoletta Selenti, et al.
Children (Basel, Switzerland)|November 25, 2023
The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-ReviewIordanis Pelagiadis, Ioannis Kyriakidis, Nikolaos Katzilakis, et al.
Molecular Syndromology|July 11, 2017
Cantú Syndrome Associated with Ovarian AgenesisHelena Fryssira, Stavroula Psoni, Styliani Amenta, et al.
Gene|November 1, 2011
Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGHSophia Kitsiou-Tzeli, Helen Frysira, Krinio Giannikou, et al.
Neuroscience Letters|January 29, 2013
COMT and MTHFR polymorphisms interaction on cognition in schizophrenia: an exploratory studyDimitrios Kontis, Eirini Theochari, Helen Fryssira, et al.
Molecular and Cellular Probes|July 16, 2016
A dynamic trinucleotide repeat (TNR) expansion in the DMD geneKyriaki Kekou, Christalena Sofocleous, George Papadimas, et al.
Children (Basel, Switzerland)|August 28, 2025
Insights into Fanconi Anemia Based on Molecular and Clinical Characteristics: A Multicentre Study of 13 PatientsSimoni Saranti, Nikoletta Selenti, Christalena Sofocleous, et al.
Pageof 6