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Nikolaos M. Marinakis
~ 100  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

Genetically confirmed coexistence of neurofibromatosis type..:

Sarantou, Sofia ; Marinakis, Nikolaos M. ; Traeger-Synodinos, Joanne...
Molecular Biology Reports.  51 (2024)  1 - p. , 2024
Link: https://doi.org/10.1007/..
 
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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

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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6

Hepatomegaly and fatty liver disease secondary to central h..:

Nikolaou, Michaela ; Vasilakis, Ioannis-Anargyros ; Marinakis, Nikolaos M....
Hormones.  22 (2023)  3 - p. 515-520 , 2023
Link: https://doi.org/10.1007/..
 
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7

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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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

Expanded phenotypic spectrum of neurodevelopmental and neur..:

Layo-Carris, Dana E ; Lubin, Emily E ; Sangree, Annabel K...
https://boris.unibe.ch/196319/.  , 2024
Link: https://boris.unibe.ch/1..
 
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10

Expanded phenotypic spectrum of neurodevelopmental and neur..:

Layo-Carris, Dana E ; Lubin, Emily E ; Sangree, Annabel K...
https://discovery.ucl.ac.uk/id/eprint/10191954/1/s41431-024-01610-1.pdf.  , 2024
Link: https://discovery.ucl.ac..
 
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11

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

Faidon-Nikolaos Tilemis ; Nikolaos M. Marinakis ; Danai Veltra...
https://www.mdpi.com/2073-4425/14/7/1490.  , 2023
Link: https://doi.org/10.3390/..
 
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12

The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, Afshin ; Lau, Tracy ; Tajsharghi, Homa...
https://boris.unibe.ch/178597/.  , 2023
Link: https://boris.unibe.ch/1..
 
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13

The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, Afshin ; Lau, Tracy ; Tajsharghi, Homa...
https://discovery.ucl.ac.uk/id/eprint/10165041/1/Houlden_awad039.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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14

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro, Vincenzo ; Maroofian, Reza ; Zaki, Maha S...
info:eu-repo/semantics/altIdentifier/pmid/38118446.  , 2023
Link: https://hdl.handle.net/1..
 
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15

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

Faidon-Nikolaos Tilemis ; Nikolaos M. Marinakis ; Danai Veltra...
Human Genomics and Genetic Diseases.  , 2023
Link: https://doi.org/10.3390/..
 
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