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Laari, Anni
7  results:
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1

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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2

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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3

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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4

A patient with pontocerebellar hypoplasia type 6 : Novel RA..:

Nevanlinna, Viivi ; Konovalova, Svetlana ; Ceulemans, Berten...
10.1016/j.ejmg.2019.103766.  , 2021
Link: http://hdl.handle.net/10..
 
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5

ZNHIT3 is defective in PEHO syndrome, a severe encephalopat..:

Anttonen, Anna-Kaisa ; Laari, Anni ; Kousi, Maria...
10.1093/brain/awx040.  , 2019
Link: http://hdl.handle.net/10..
 
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6

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquiti..:

Muona, Mikko ; Ishimura, Ryosuke ; Laari, Anni...
10.1016/j.ajhg.2016.06.020.  , 2017
Link: http://hdl.handle.net/10..
 
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7

Dysfunctional ADAM22 implicated in progressive encephalopat..:

Muona, Mikko ; Fukata, Yuko ; Anttonen, Anna-Kaisa...
10.1212/NGX.0000000000000046.  , 2017
Link: http://hdl.handle.net/10..
 
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