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Kosma, Konstantina
47
results:
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Online (47)
Mediatypes
Articles (Online) (24)
OpenAccess-fulltext (23)
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1
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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2
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/..
?
3
Alport Syndrome: Clinical Utility of Early Genetic Diagnosi..:
Christodoulaki, Vasileia
;
Kosma, Konstantina
;
Marinakis, Nikolaos M.
...
Genes. 15 (2024) 8 - p. 1016 , 2024
Link:
https://doi.org/10.3390/..
?
4
De novo variants in RNF213 are associated with a clinical s..:
Brunet, Theresa
;
Zott, Benedikt
;
Lieftüchter, Victoria
...
Genetics in Medicine. 26 (2024) 2 - p. 101013 , 2024
Link:
https://doi.org/10.1016/..
?
5
The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Re..:
Mitrakos, Anastasios K.
;
Kosma, Konstantina
;
Makrythanasis, Periklis
.
Genes. 15 (2024) 8 - p. 1053 , 2024
Link:
https://doi.org/10.3390/..
?
6
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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7
Prenatal Chromosomal Microarray Analysis: Does Increased Re..:
Mitrakos, Anastasios
;
Kosma, Konstantina
;
Makrythanasis, Periklis
.
Genes. 14 (2023) 8 - p. 1519 , 2023
Link:
https://doi.org/10.3390/..
?
8
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/..
?
9
NFB-17. "Optic Pathway findings in children with Neurofibro..:
Roka, Kleoniki
;
Kokkinou, Eleftheria
;
Gavra, Maria
...
Neuro-Oncology. 24 (2022) Supplement_1 - p. i131-i131 , 2022
Link:
https://doi.org/10.1093/..
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10
Molecular and clinical profile of patients referred as Noon..:
Papadopoulos, George
;
Papadopoulou, Anna
;
Kosma, Konstantina
...
European Journal of Pediatrics. 181 (2022) 10 - p. 3691-3700 , 2022
Link:
https://doi.org/10.1007/..
?
11
A novel pathogenic ATP6V1B2 variant: Widening the genotypic..:
Veltra, Danai
;
Kosma, Konstantina
;
Papavasiliou, Antigoni
...
American Journal of Medical Genetics Part A. 188 (2022) 12 - p. 3563-3566 , 2022
Link:
https://doi.org/10.1002/..
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12
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/..
?
13
Phenotypic expression of a spectrum of Neurofibromatosis Ty..:
Tsipi, Maria
;
Poulou, Myrto
;
Fylaktou, Irene
...
Journal of the Neurological Sciences. 395 (2018) - p. 95-105 , 2018
Link:
https://doi.org/10.1016/..
?
14
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/..
?
15
Genomic screening of ABCA4 and array CGH analysis underline..:
Tsipi, Maria
;
Tzetis, Maria
;
Kosma, Konstantina
...
Meta Gene. 8 (2016) - p. 37-43 , 2016
Link:
https://doi.org/10.1016/..
1-15