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Alexandrou, Angelos
34  Ergebnisse:
OpenAccess-Volltexte X
Personensuche X
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1

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...
 
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2

Hereditary multiple exostoses caused by a chromosomal inver..:

Alexandrou, Angelos ; Salameh, Nicole ; Papaevripidou, Ioannis...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10204154/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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3

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...
 
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4

Unravelling the genetic causes of multiple malformation syn..:

Kritioti, Evie ; Theodosiou, Athina ; Parpaite, Thibaud...
info:eu-repo/semantics/altIdentifier/doi/10.1371/journal.pone.0253562.  , 2021
Link: https://amu.hal.science/..
 
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5

Unravelling the genetic causes of multiple malformation syn..:

Kritioti, Evie ; Theodosiou, Athina ; Parpaite, Thibaud...
info:eu-repo/semantics/altIdentifier/doi/10.1371/journal.pone.0253562.  , 2021
Link: https://hal-amu.archives..
 
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6

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

Alexandrou, Angelos ; Papaevripidou, Ioannis ; Alexandrou, Ioanna Maria...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389470/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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7

Molecular analysis of Cypriot families with aniridia reveal..:

Syrimis, Andreas ; Nicolaou, Nayia ; Alexandrou, Angelos...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6072148/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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8

Two unrelated individuals carrying rare mosaic deletions in..:

Kousoulidou, Ludmila ; Alexandrou, Angelos ; Papaevripidou, Ioannis...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587998/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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9

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

Andrea Hadjipanteli ; Athina Theodosiou ; Ioannis Papaevripidou...
https://www.mdpi.com/2073-4425/15/1/119.  , 2024
Link: https://doi.org/10.3390/..
 
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10

GAA variants associated with reduced enzymatic activity but..:

Anna Malekkou ; Athina Theodosiou ; Angelos Alexandrou...
http://www.sciencedirect.com/science/article/pii/S2214426923000435.  , 2023
Link: https://doi.org/10.1016/..
 
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11

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

Eleni Angelopoulou ; Athina Theodosiou ; Ioannis Papaevripidou...
http://www.sciencedirect.com/science/article/pii/S2405844023101952.  , 2023
Link: https://doi.org/10.1016/..
 
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12

Hereditary multiple exostoses caused by a chromosomal inver..:

Angelos Alexandrou ; Nicole Salameh ; Ioannis Papaevripidou...
https://doi.org/10.1186/s13039-023-00638-0.  , 2023
Link: https://doi.org/10.1186/..
 
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13

Exploring the Genetic Causality of Discordant Phenotypes in..:

Constantia Aristidou ; Athina Theodosiou ; Angelos Alexandrou...
https://www.mdpi.com/2073-4425/14/1/82.  , 2022
Link: https://doi.org/10.3390/..
 
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14

Exploring the Genetic Causality of Discordant Phenotypes in..:

Constantia Aristidou ; Athina Theodosiou ; Angelos Alexandrou...
Cytogenomics.  , 2022
Link: https://doi.org/10.3390/..
 
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15

Unravelling the genetic causes of multiple malformation syn..:

Evie Kritioti ; Athina Theodosiou ; Thibaud Parpaite...
https://doi.org/10.1371/journal.pone.0253562.  , 2021
Link: https://doi.org/10.1371/..
 
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