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Tanteles, George A.
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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

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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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