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Genes
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August 26, 2023
Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?
Anastasios Mitrakos, Konstantina Kosma, Periklis Makrythanasis, et al.
Pediatric Pulmonology
|
January 29, 2025
Elexacaftor/Tezacaftor/Ivacaftor Effect on a Patient With Rare Compound Heterozygous CFTR Splice Variant Genotype C.[1393-1G>A;2988+1G>A]
Maria Moustaki, Maria Tzetis, Anastasios Mitrakos, et al.
Molecular Syndromology
|
September 9, 2020
Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous <i>SMARCA4</i> Deletion Detected by High-Resolution aCGH
Anastasios Mitrakos, Leandros Lazaros, Amelia Pantou, et al.
Molecular Syndromology
|
October 4, 2021
239-kb Microdeletion Spanning <i>KMT2E</i> in a Child with Developmental Delay: Further Delineation of the Phenotype
Konstantina Kosma, Konstantinos Varvagiannis, Anastasios Mitrakos, et al.
Neuropediatrics
|
December 13, 2018
A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array
Konstantina Kosma, Anastasios Mitrakos, Christalena Sofokleous, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
March 13, 2016
Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses
Maria Tzetis, Anastasia Konstantinidou, Christalena Sofocleous, et al.
Leukemia Research
|
July 2, 2019
High resolution Chromosomal Microarray Analysis (CMA) enhances the genetic profile of pediatric B-cell Acute Lymphoblastic Leukemia patients
Anastasios Mitrakos, Antonis Kattamis, Katerina Katsibardi, et al.
In Vivo (Athens, Greece)
|
May 2, 2020
Low-level X Chromosome Mosaicism: A Common Finding in Women Undergoing IVF
Sophia Zachaki, Elisavet Kouvidi, Amelia Pantou, et al.
Genes
|
July 29, 2023
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases
Faidon-Nikolaos Tilemis, Nikolaos M Marinakis, Danai Veltra, et al.
Journal of Assisted Reproduction and Genetics
|
March 26, 2022
The impact of preimplantation genetic testing for aneuploidies (PGT-A) on clinical outcomes in high risk patients
Amelia Pantou, Anastasios Mitrakos, Georgia Kokkali, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 14) with videos related to
Sort By:
Page
of 2
Genes
|
August 26, 2023
Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?
Anastasios Mitrakos, Konstantina Kosma, Periklis Makrythanasis, et al.
Pediatric Pulmonology
|
January 29, 2025
Elexacaftor/Tezacaftor/Ivacaftor Effect on a Patient With Rare Compound Heterozygous CFTR Splice Variant Genotype C.[1393-1G>A;2988+1G>A]
Maria Moustaki, Maria Tzetis, Anastasios Mitrakos, et al.
Molecular Syndromology
|
September 9, 2020
Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous <i>SMARCA4</i> Deletion Detected by High-Resolution aCGH
Anastasios Mitrakos, Leandros Lazaros, Amelia Pantou, et al.
Molecular Syndromology
|
October 4, 2021
239-kb Microdeletion Spanning <i>KMT2E</i> in a Child with Developmental Delay: Further Delineation of the Phenotype
Konstantina Kosma, Konstantinos Varvagiannis, Anastasios Mitrakos, et al.
Neuropediatrics
|
December 13, 2018
A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array
Konstantina Kosma, Anastasios Mitrakos, Christalena Sofokleous, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
March 13, 2016
Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses
Maria Tzetis, Anastasia Konstantinidou, Christalena Sofocleous, et al.
Leukemia Research
|
July 2, 2019
High resolution Chromosomal Microarray Analysis (CMA) enhances the genetic profile of pediatric B-cell Acute Lymphoblastic Leukemia patients
Anastasios Mitrakos, Antonis Kattamis, Katerina Katsibardi, et al.
In Vivo (Athens, Greece)
|
May 2, 2020
Low-level X Chromosome Mosaicism: A Common Finding in Women Undergoing IVF
Sophia Zachaki, Elisavet Kouvidi, Amelia Pantou, et al.
Genes
|
July 29, 2023
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases
Faidon-Nikolaos Tilemis, Nikolaos M Marinakis, Danai Veltra, et al.
Journal of Assisted Reproduction and Genetics
|
March 26, 2022
The impact of preimplantation genetic testing for aneuploidies (PGT-A) on clinical outcomes in high risk patients
Amelia Pantou, Anastasios Mitrakos, Georgia Kokkali, et al.
Page
of 2