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Veltra, Danai
15
results:
Search for persons
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Online (15)
Mediatypes
Articles (Online) (9)
OpenAccess-fulltext (6)
Sorted by: Relevance
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?
1
A TMEM63A Nonsense Heterozygous Variant Linked to Infantile..:
Siori, Dimitra
;
Vlachakis, Dimitrios
;
Makrythanasis, Periklis
...
Genes. 15 (2024) 5 - p. 525 , 2024
Link:
https://doi.org/10.3390/..
?
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/..
?
3
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/..
?
4
The Diverse Genomic Landscape of Diamond–Blackfan Anemia: T..:
Pelagiadis, Iordanis
;
Kyriakidis, Ioannis
;
Katzilakis, Nikolaos
...
Children. 10 (2023) 11 - p. 1812 , 2023
Link:
https://doi.org/10.3390/..
?
5
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/..
?
6
P798: DIAMOND BLACKFAN ANEMIA MAY ESCAPE DIAGNOSIS UP TO AD..:
Delaporta, Polyxeni
;
Sofocleous, Christalena
;
Glentis, Stavros
...
HemaSphere. 7 (2023) S3 - p. e034222c , 2023
Link:
https://doi.org/10.1097/..
?
7
CAPRIN1 haploinsufficiency causes a neurodevelopmental diso..:
Pavinato, Lisa
;
Delle Vedove, Andrea
;
Carli, Diana
...
Brain. 146 (2022) 2 - p. 534-548 , 2022
Link:
https://doi.org/10.1093/..
?
8
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/..
?
9
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/..
?
10
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..
?
11
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..
?
12
P798: DIAMOND BLACKFAN ANEMIA MAY ESCAPE DIAGNOSIS UP TO AD..:
Delaporta, Polyxeni
;
Sofocleous, Christalena
;
Glentis, Stavros
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10430636/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
13
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/..
?
14
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/..
?
15
P798: DIAMOND BLACKFAN ANEMIA MAY ESCAPE DIAGNOSIS UP TO AD..:
Polyxeni Delaporta
;
Christalena Sofocleous
;
Stavros Glentis
...
http://journals.lww.com/10.1097/01.HS9.0000970096.03422.2c. , 2023
Link:
https://doi.org/10.1097/..
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