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Kosma, Konstantina
47  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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