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Makrythanasis, P
47
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Online (47)
Mediatypes
Articles (Online) (13)
OpenAccess-fulltext (34)
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1
Genetic predisposition in pediatric acute myocarditis: a pi..:
Gourzi, P
;
Pantou, M P
;
Vagenakis, G
...
European Heart Journal. 42 (2021) Supplement_1 - p. , 2021
Link:
https://doi.org/10.1093/..
?
2
Proteome-based classification of non-muscle invasive bladde..:
Fragkoulis, C.
;
Stroggilos, R.
;
Latosinska, A.
...
European Urology Supplements. 18 (2019) 11 - p. e3407 , 2019
Link:
https://doi.org/10.1016/..
?
3
P3987Targeted exome sequencing for mendelian cardiac disord..:
Fokstuen, S.
;
Guipponi, M.
;
Hammar, E.B.
...
European Heart Journal. 38 (2017) suppl_1 - p. , 2017
Link:
https://doi.org/10.1093/..
?
4
Experience of a multidisciplinary task force with exome seq..:
Fokstuen, S.
;
Makrythanasis, P.
;
Hammar, E.
...
Human Genomics. 10 (2016) 1 - p. , 2016
Link:
https://doi.org/10.1186/..
?
5
MLL2 mutation detection in 86 patients with Kabuki syndrome..:
Makrythanasis, P
;
van Bon, BW
;
Steehouwer, M
...
Clinical Genetics. 84 (2013) 6 - p. 539-545 , 2013
Link:
https://doi.org/10.1111/..
?
6
Multiplex targeted high‐throughput sequencing for Mendelian..:
Fokstuen, S.
;
Makrythanasis, P.
;
Nikolaev, S.
...
Clinical Genetics. 85 (2013) 4 - p. 365-370 , 2013
Link:
https://doi.org/10.1111/..
?
7
Pathogenic variants in non‐protein‐coding sequences:
Makrythanasis, P
;
Antonarakis, SE
Clinical Genetics. 84 (2013) 5 - p. 422-428 , 2013
Link:
https://doi.org/10.1111/..
?
8
A de novo 12q13.11 microdeletion in a patient with severe m..:
Gimelli, S.
;
Makrythanasis, P.
;
Stouder, C.
...
European Journal of Medical Genetics. 54 (2011) 1 - p. 94-96 , 2011
Link:
https://doi.org/10.1016/..
?
9
De novo duplication of MECP2 in a girl with mental retardat..:
Makrythanasis, P
;
Moix, I
;
Gimelli, S
...
Clinical Genetics. 78 (2010) 2 - p. 175-180 , 2010
Link:
https://doi.org/10.1111/..
?
10
Contribution of the CFTR gene, the pancreatic secretory try..:
Tzetis, M
;
Kaliakatsos, M
;
Fotoulaki, M
...
Clinical Genetics. 71 (2007) 5 - p. 451-457 , 2007
Link:
https://doi.org/10.1111/..
?
11
FOXI3 pathogenic variants cause one form of craniofacial mi..:
Mao, K
;
Borel, C
;
Ansar, M
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-023-37703-6. , 2023
Link:
https://serval.unil.ch/n..
?
12
Biallelic loss of function variants in PPP1R21 cause a neur..:
Rehman, A.U
;
Najafi, M
;
Kambouris, M
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.23694. , 2019
Link:
https://serval.unil.ch/n..
?
13
Biallelic loss of function variants in PPP1R21 cause a neur..:
Rehman, AU
;
Najafi, M
;
Kambouris, M
...
https://openaccess.sgul.ac.uk/id/eprint/110482/6/Rehman_et_al-2018-Human_Mutation.pdf. , 2019
Link:
https://openaccess.sgul...
?
14
Vitamin D-related genes, blood vitamin D levels and colorec..:
Fedirko, V
;
Mandle, H
;
Zhu, W
...
doi:10.3390/nu11081954. , 2019
Link:
https://doi.org/10.3390/..
?
15
Vitamin D-related genes, blood vitamin D levels and colorec..:
Fedirko, V
;
Mandle, HB
;
Zhu, W
...
Nutrients. , 2019
Link:
http://hdl.handle.net/10..
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