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Kekou, Kyriaki
39  results:
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1

SCN1A Channels a Wide Range of Epileptic Phenotypes: Report..:

Veltra, Danai ; Theodorou, Virginia ; Katsalouli, Marina...
International Journal of Molecular Sciences.  25 (2024)  11 - p. 5644 , 2024
Link: https://doi.org/10.3390/..
 
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2

Lethal Complications and Complex Genotypes in Shwachman Dia..:

Veltra, Danai ; Marinakis, Nikolaos M. ; Kotsios, Ioannis...
Children.  11 (2024)  6 - p. 705 , 2024
Link: https://doi.org/10.3390/..
 
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3

Myotonia congenita in a Greek cohort: Genotype spectrum and..:

Marinakis, Nikolaos M. ; Svingou, Maria ; Papadimas, Giorgos‐Konstantinos...
Muscle & Nerve.  70 (2024)  2 - p. 240-247 , 2024
Link: https://doi.org/10.1002/..
 
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4

Germline CNV Detection through Whole-Exome Sequencing (WES)..:

Tilemis, Faidon-Nikolaos ; Marinakis, Nikolaos M. ; Veltra, Danai...
Genes.  14 (2023)  7 - p. 1490 , 2023
Link: https://doi.org/10.3390/..
 
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5

Orofacial Muscle Weakening in Facioscapulohumeral Muscular ..:

Konstantonis, Dimitrios ; Kekou, Kyriaki ; Papaefthymiou, Petros...
Children.  9 (2022)  1 - p. 96 , 2022
Link: https://doi.org/10.3390/..
 
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6

A Greek National Cross-Sectional Study on Myotonic Dystroph..:

Papadimas, Georgios K. ; Papadopoulos, Constantinos ; Kekou, Kyriaki...
International Journal of Molecular Sciences.  23 (2022)  24 - p. 15507 , 2022
Link: https://doi.org/10.3390/..
 
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7

Homozygosity of the Z‐2 polymorphic variant in the aldose r..:

Kallinikou, Dimitra ; Tsentidis, Charalampos ; Kekou, Kyriaki...
Pediatric Diabetes.  23 (2021)  1 - p. 104-114 , 2021
Link: https://doi.org/10.1111/..
 
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8

Phenotype‐driven variant filtration strategy in exome seque..:

Marinakis, Nikolaos M. ; Svingou, Maria ; Veltra, Danai...
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2561-2571 , 2021
Link: https://doi.org/10.1002/..
 
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9

Evaluation of Genotypes and Epidemiology of Spinal Muscular..:

Kekou, Kyriaki ; Svingou, Maria ; Sofocleous, Christalena...
Journal of Neuromuscular Diseases.  7 (2020)  3 - p. 247-256 , 2020
Link: https://doi.org/10.3233/..
 
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10

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study o..:

Koeks, Zaïda ; Bladen, Catherine L. ; Salgado, David...
Journal of Neuromuscular Diseases.  4 (2017)  4 - p. 293-306 , 2017
Link: https://doi.org/10.3233/..
 
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11

Analysis of a founder mutation in the TH gene in a cohort o..:

Pons, Roser ; Kekou, Kyriaki ; Antonellou, Roubina...
Movement Disorders.  31 (2016)  11 - p. 1753-1754 , 2016
Link: https://doi.org/10.1002/..
 
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12

A dynamic trinucleotide repeat (TNR) expansion in the DMD g..:

Kekou, Kyriaki ; Sofocleous, Christalena ; Papadimas, George...
Molecular and Cellular Probes.  30 (2016)  4 - p. 254-260 , 2016
Link: https://doi.org/10.1016/..
 
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13

Single amino acid loss in the dystrophin protein associated..:

Pons, Roser ; Kekou, Kyriaki ; Gkika, Artemis...
Muscle & Nerve.  55 (2016)  1 - p. 46-50 , 2016
Link: https://doi.org/10.1002/..
 
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14

The TREAT-NMD DMD Global Database: Analysis of More than 7,..:

Bladen, Catherine L. ; Salgado, David ; Monges, Soledad...
Human Mutation.  36 (2015)  4 - p. 395-402 , 2015
Link: https://doi.org/10.1002/..
 
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15

A simplified approach for FSHD molecular testing:

Papanikos, Frantzeskos ; Skoulatou, Christina ; Sakellariou, Paraskevi...
Clinica Chimica Acta.  429 (2014)  - p. 96-103 , 2014
Link: https://doi.org/10.1016/..
 
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