E-LIB Suche - Ergebnisse für: Theodosiou, Athina

1

Sodium Channel Gene Variants in Fetuses with Abnormal Sonog..:

Hadjipanteli, Andrea ; Theodosiou, Athina ; Papaevripidou, Ioannis...
Genes. 15 (2024) 1 - p. 119 , 2024

Link: https://doi.org/10.3390/..

2

CHD2 pathogenic nonsense variant in a three-generation fami..:

Angelopoulou, Eleni ; Theodosiou, Athina ; Papaevripidou, Ioannis...
Heliyon. 9 (2023) 12 - p. e22987 , 2023

Link: https://doi.org/10.1016/..

3

GAA variants associated with reduced enzymatic activity but..:

Malekkou, Anna ; Theodosiou, Athina ; Alexandrou, Angelos...
Molecular Genetics and Metabolism Reports. 36 (2023) - p. 100997 , 2023

Link: https://doi.org/10.1016/..

4

Exploring the Genetic Causality of Discordant Phenotypes in..:

Aristidou, Constantia ; Theodosiou, Athina ; Alexandrou, Angelos...
Genes. 14 (2022) 1 - p. 82 , 2022

Link: https://doi.org/10.3390/..

5

Unravelling the genetic causes of multiple malformation syn..:

Kritioti, Evie ; Theodosiou, Athina ; Parpaite, Thibaud...
PLOS ONE. 16 (2021) 7 - p. e0253562 , 2021

Link: https://doi.org/10.1371/..

6

Novel pericentric inversion inv(9)(p23q22.3) in unrelated i..:

Sismani, Carolina ; Rapti, Stamatia-Maria ; Iliopoulou, Pavlina...
Journal of Human Genetics. 65 (2020) 9 - p. 783-795 , 2020

Link: https://doi.org/10.1038/..

7

De novo mosaic MECP2 mutation in a female with Rett syndrom:

Alexandrou, Angelos ; Papaevripidou, Ioannis ; Alexandrou, Ioanna Maria...
Clinical Case Reports. 7 (2019) 2 - p. 366-370 , 2019

Link: https://doi.org/10.1002/..

8

Cryptic breakpoint identified by whole-genome mate-pair seq..:

Aristidou, Constantia ; Theodosiou, Athina ; Ketoni, Andria...
Molecular Cytogenetics. 11 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

9

Position effect, cryptic complexity, and direct gene disrup..:

Aristidou, Constantia ; Theodosiou, Athina ; Bak, Mads...
PLOS ONE. 13 (2018) 10 - p. e0205298 , 2018

Link: https://doi.org/10.1371/..

10

Accurate Breakpoint Mapping in Apparently Balanced Transloc..:

Aristidou, Constantia ; Koufaris, Costas ; Theodosiou, Athina...
PLOS ONE. 12 (2017) 1 - p. e0169935 , 2017

Link: https://doi.org/10.1371/..

11

LaTcOm: a web server for visualizing rare codon clusters in..:

Theodosiou, Athina ; Promponas, Vasilis J.
Bioinformatics. 28 (2011) 4 - p. 591-592 , 2011

Link: https://doi.org/10.1093/..

12

Protein Interactions and Diseases:

, In: Handbook of Research on Systems Biology Applications in Medicine,

Theodosiou, Athina ; Moschopoulos, Charalampos ; Baumann, Marc. ,

Link: https://doi.org/10.4018/..

13

First reported case of Steel syndrome in the European popul..:

Evie Kritioti ; Athina Theodosiou ; Nayia Nicolaou...
European Journal of Medical Genetics. 63 (2020) 7 - p. 103939 , 2020

Link: https://doi.org/10.1016/..

14

GAA variants associated with reduced enzymatic activity but..:

Malekkou, Anna ; Theodosiou, Athina ; Alexandrou, Angelos...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10433214/. , 2023

Link: http://www.ncbi.nlm.nih...

15

CHD2 pathogenic nonsense variant in a three-generation fami..:

Angelopoulou, Eleni ; Theodosiou, Athina ; Papaevripidou, Ioannis...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10731059/. , 2023

Link: http://www.ncbi.nlm.nih...