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Alexandrou, Angelos
71  Ergebnisse:
Personensuche X
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1

A novel large intragenic DPYD deletion causing dihydropyrim..:

Malekkou, Anna ; Tomazou, Marios ; Mavrikiou, Gavriella...
BMC Medical Genomics.  17 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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5

Hereditary multiple exostoses caused by a chromosomal inver..:

Alexandrou, Angelos ; Salameh, Nicole ; Papaevripidou, Ioannis...
Molecular Cytogenetics.  16 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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6

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/..
 
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7

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/..
 
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8

An unusual combination of an atypical maternally inherited ..:

Evangelidou, Paola ; Kousoulidou, Ludmila ; Salameh, Nicole...
European Journal of Medical Genetics.  63 (2020)  12 - p. 104084 , 2020
Link: https://doi.org/10.1016/..
 
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9

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/..
 
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10

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/..
 
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11

Two unrelated individuals carrying rare mosaic deletions in..:

Kousoulidou, Ludmila ; Alexandrou, Angelos ; Papaevripidou, Ioannis...
American Journal of Medical Genetics Part A.  179 (2018)  1 - p. 134-138 , 2018
Link: https://doi.org/10.1002/..
 
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12

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/..
 
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13

Aniridia due to a novel microdeletion affecting $$\textit{P..:

Syrimis, Andreas ; Nicolaou, Nayia ; Alexandrou, Angelos...
Journal of Genetics.  97 (2018)  2 - p. 555-562 , 2018
Link: https://doi.org/10.1007/..
 
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14

NovelGLADeletion in a Cypriot Female Presenting with Cornea..:

Georgiou, Theodoros ; Mavrikiou, Gavriella ; Alexandrou, Angelos...
Case Reports in Genetics.  2016 (2016)  - p. 1-6 , 2016
Link: https://doi.org/10.1155/..
 
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15

Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a ch..:

KOUFARIS, COSTAS ; ALEXANDROU, ANGELOS ; PAPAEVRIPIDOU, IOANNIS...
Journal of Genetics.  95 (2016)  3 - p. 621-624 , 2016
Link: https://doi.org/10.1007/..
 
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