E-LIB Suche - Ergebnisse für: Anttonen, Anna-Kaisa

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

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/..

5

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/..

6

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/..

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

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/..

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

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/..

11

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/..

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/..