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Anttonen, Anna-Kaisa
87
results:
Search for persons
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Format
Online (87)
Mediatypes
Articles (Online) (36)
Bookchapter (Online) (10)
OpenAccess-fulltext (41)
Languages
english (72)
finnish (3)
Sorted by: Relevance
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1
Duplication/triplication mosaicism of EBF3 and expansion of..:
Ignatius, Erika
;
Puosi, Riina
;
Palomäki, Maarit
...
European Journal of Paediatric Neurology. 37 (2022) - p. 1-7 , 2022
Link:
https://doi.org/10.1016/..
?
2
Cost of providing cell-free DNA screening for Down syndrome..:
Cuckle, Howard
;
Heinonen, Seppo
;
Anttonen, Anna-Kaisa
.
Journal of Perinatal Medicine. 50 (2021) 3 - p. 233-243 , 2021
Link:
https://doi.org/10.1515/..
?
3
CDK19-related disorder results from both loss-of-function a..:
Zarate, Yuri A.
;
Uehara, Tomoko
;
Abe, Kota
...
Genetics in Medicine. 23 (2021) 6 - p. 1050-1057 , 2021
Link:
https://doi.org/10.1038/..
?
4
Constitutional mosaicism for a BRCA2 mutation as a cause of..:
Alhopuro, Pia
;
Vainionpää, Reetta
;
Anttonen, Anna-Kaisa
...
Familial Cancer. 19 (2020) 4 - p. 307-310 , 2020
Link:
https://doi.org/10.1007/..
?
5
Detection of KRAS mutations in liquid biopsies from metasta..:
Holm, Matilda
;
Andersson, Emma
;
Osterlund, Emerik
...
PLOS ONE. 15 (2020) 11 - p. e0239819 , 2020
Link:
https://doi.org/10.1371/..
?
6
A patient with pontocerebellar hypoplasia type 6: Novel RAR..:
Nevanlinna, Viivi
;
Konovalova, Svetlana
;
Ceulemans, Berten
...
European Journal of Medical Genetics. 63 (2020) 3 - p. 103766 , 2020
Link:
https://doi.org/10.1016/..
?
7
Urine microRNA Profiling Displays miR-125a Dysregulation in..:
Putkonen, Noora
;
Laiho, Asta
;
Ethell, Doug
...
Cells. 9 (2020) 2 - p. 289 , 2020
Link:
https://doi.org/10.3390/..
?
8
Phenotypic and Imaging Spectrum Associated With WDR45:
Adang, Laura A.
;
Pizzino, Amy
;
Malhotra, Alka
...
Pediatric Neurology. 109 (2020) - p. 56-62 , 2020
Link:
https://doi.org/10.1016/..
?
9
Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral ..:
Smith, Richard S.
;
Kenny, Connor J.
;
Ganesh, Vijay
...
Neuron. 99 (2018) 5 - p. 905-913.e7 , 2018
Link:
https://doi.org/10.1016/..
?
10
ZNHIT3 is defective in PEHO syndrome, a severe encephalopat..:
Anttonen, Anna-Kaisa
;
Laari, Anni
;
Kousi, Maria
...
Brain. 140 (2017) 5 - p. 1267-1279 , 2017
Link:
https://doi.org/10.1093/..
?
11
Reply: The phenotypic and molecular spectrum of PEHO syndro..:
Anttonen, Anna-Kaisa
;
Lehesjoki, Anna-Elina
Brain. 140 (2017) 8 - p. e50-e50 , 2017
Link:
https://doi.org/10.1093/..
?
12
Selenoprotein biosynthesis defect causes progressive enceph..:
Anttonen, Anna-Kaisa
;
Hilander, Taru
;
Linnankivi, Tarja
...
Neurology. 85 (2015) 4 - p. 306-315 , 2015
Link:
https://doi.org/10.1212/..
?
13
PRRT2-related disorders: further PKD and ICCA cases and rev..:
Becker, Felicitas
;
Schubert, Julian
;
Striano, Pasquale
...
Journal of Neurology. 260 (2013) 5 - p. 1234-1244 , 2013
Link:
https://doi.org/10.1007/..
?
14
Suggestive evidence for a new locus for epilepsy with heter..:
Sirén, Auli
;
Polvi, Anne
;
Chahine, Lyne
...
Epilepsy Research. 88 (2010) 1 - p. 65-75 , 2010
Link:
https://doi.org/10.1016/..
?
15
Digenic mutations in severe myoclonic epilepsy of infancy:
Bolszak, Maija
;
Anttonen, Anna-Kaisa
;
Komulainen, Tuomas
...
Epilepsy Research. 85 (2009) 2-3 - p. 300-304 , 2009
Link:
https://doi.org/10.1016/..
1-15