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Tanteles, George A.
147
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Online (147)
Mediatypes
Articles (Online) (52)
OpenAccess-fulltext (95)
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1
Two case reports of a novel missense mutation in the PNPLA6..:
Liampas, Andreas
;
Nicolaou, Paschalis
;
Votsi, Christina
...
Molecular Biology Reports. 51 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1007/..
?
2
Inherited metabolic disorders in Cyprus:
Georgiou, Theodoros
;
Petrou, Petros P.
;
Malekkou, Anna
...
Molecular Genetics and Metabolism Reports. 39 (2024) - p. 101083 , 2024
Link:
https://doi.org/10.1016/..
?
3
The pathogenic p.Gln319Ter variant is not causing congenita..:
Fanis, Pavlos
;
Skordis, Nicos
;
Toumba, Meropi
...
Frontiers in Endocrinology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
4
Spinal muscular atrophy type I associated with a novel SMN1..:
Votsi, Christina
;
Koutsou, Pantelitsa
;
Ververis, Antonis
...
Frontiers in Neurology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
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/..
?
6
Surveillance and monitoring in vascular Ehlers-Danlos syndr..:
van de Laar, Ingrid M.B.H.
;
Baas, Annette F.
;
De Backer, Julie
...
European Journal of Medical Genetics. 65 (2022) 9 - p. 104557 , 2022
Link:
https://doi.org/10.1016/..
?
7
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/..
?
8
Transcriptomic characterization of tissues from patients an..:
Kakouri, Andrea C.
;
Votsi, Christina
;
Oulas, Anastasis
...
Cell & Bioscience. 12 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
9
Natural history of KBG syndrome in a large European cohort:
Loberti, Lorenzo
;
Bruno, Lucia Pia
;
Granata, Stefania
...
Human Molecular Genetics. 31 (2022) 24 - p. 4131-4142 , 2022
Link:
https://doi.org/10.1093/..
?
10
Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital..:
Sargiannidou, Irene
;
Christophidou-Anastasiadou, Violetta
;
Hadjisavvas, Andreas
..
Frontiers in Genetics. 11 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
11
A Novel CLN6 Variant Associated With Juvenile Neuronal Cero..:
Nicolaou, Paschalis
;
Tanteles, George A.
;
Votsi, Christina
...
Frontiers in Genetics. 12 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
12
Demographic characteristics, clinical and laboratory featur..:
Yiallouros, Panayiotis K.
;
Matthaiou, Andreas Μ.
;
Anagnostopoulou, Pinelopi
...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
13
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/..
?
14
Pathogenic and Low-Frequency Variants in Children With Cent..:
Neocleous, Vassos
;
Fanis, Pavlos
;
Toumba, Meropi
...
Frontiers in Endocrinology. 12 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
15
Assessing the utility of long-read nanopore sequencing for ..:
Watson, Christopher M.
;
Crinnion, Laura A.
;
Lindsay, Helen
...
Laboratory Investigation. 101 (2021) 4 - p. 442-449 , 2021
Link:
https://doi.org/10.1038/..
1-15