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Biology|March 26, 2022
Heterozygosity of the Complex Corfu δ0β+ Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) RevisitedChristos Kattamis, Myrto Skafida, Polyxeni Delaporta, et al.
Pediatric Research|January 26, 2010
Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletionStavroula Psoni, Christalena Sofocleous, Joanne Traeger-Synodinos, et al.
Hormone Research in Paediatrics|July 27, 2012
A rare case of a male with 45, XO, SRY+, ZFY+ with short stature and mild Turner stigmataGeorgia Ntali, Christalena Sofocleous, Elisabeth Kouvidi, et al.
Brain & Development|October 11, 2011
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disordersStavroula Psoni, Christalena Sofocleous, Joanne Traeger-Synodinos, et al.
Psychiatric Genetics|July 16, 2013
Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autismKonstantina Volaki, Andreas Pampanos, Sophia Kitsiou-Tzeli, et al.
Pediatric Blood & Cancer|August 19, 2014
Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan AnemiaPolyxeni Delaporta, Christalena Sofocleous, Eftichia Stiakaki, et al.
Anticancer Research|July 31, 2013
Investigation of FANCA mutations in Greek patientsNikoletta Selenti, Christalena Sofocleous, Antonis Kattamis, et al.
Menopause (New York, N.Y.)|May 20, 2015
A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndromeNikolaos Settas, Margarita Anapliotou, Emmanuel Kanavakis, et al.
Children (Basel, Switzerland)|June 27, 2024
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the LiteratureDanai Veltra, Nikolaos M Marinakis, Ioannis Kotsios, et al.
Menopause (New York, N.Y.)|January 11, 2022
Ovarian insufficiency and secondary amenorrhea in a patient with a novel variant within GDF9 geneNikolaos M Marinakis, Eirini Tsoutsou, Christalena Sofocleous, et al.
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