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Anttonen, Anna-Kaisa
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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