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Nikolaos M. Marinakis
~ 100
results:
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Online
Mediatypes
E-Books
Articles (Online)
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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/..
?
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/..
?
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
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/..
?
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/..
?
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/..
?
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/..
?
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..
?
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..
?
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/..
?
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..
?
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..
?
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..
?
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/..
1-15