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Aula, Pertti
62
results:
Search for persons
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Format
Online (62)
Mediatypes
Articles (Online) (57)
Bookchapter (Online) (1)
OpenAccess-fulltext (4)
Languages
english (53)
finnish (2)
Sorted by: Relevance
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?
1
The Finnish Disease Heritage Database (FinDis) Update-A Dat..:
Polvi, Anne
;
Linturi, Henna
;
Varilo, Teppo
...
Human Mutation. 34 (2013) 11 - p. 1458-1466 , 2013
Link:
https://doi.org/10.1002/..
?
2
Prenatal diagnosis of free sialic acid storage disorders (S..:
Aula, Nina
;
Aula, Pertti
Prenatal Diagnosis. 26 (2006) 8 - p. 655-658 , 2006
Link:
https://doi.org/10.1002/..
?
3
Neurocognitive profiles in Salla disease:
Alajoki, Liisa
;
Varho, Tarja
;
Posti, Kristiina
..
Developmental Medicine & Child Neurology. 46 (2004) 12 - p. 832-837 , 2004
Link:
https://doi.org/10.1111/..
?
4
Neurocognitive profiles in Salla disease:
Alajoki, Liisa
;
Varho, Tarja
;
Posti, Kristiina
..
Developmental Medicine & Child Neurology. 46 (2004) 12 - p. , 2004
Link:
https://doi.org/10.1017/..
?
5
Promoter analysis of the human SLC7A7 gene encoding y+L ami..:
Mykkänen, Juha
;
Toivonen, Minna
;
Kleemola, Maaria
...
Biochemical and Biophysical Research Communications. 301 (2003) 4 - p. 855-861 , 2003
Link:
https://doi.org/10.1016/..
?
6
Modeling the socio-cultural context:
, In:
Proceedings of the 2003 international conference on Designing pleasurable products and interfaces
,
Aula, Pertti
;
Pekkala, Janne
;
Romppainen, Jenni
- p. 132-133 , 2003
Link:
https://dl.acm.org/doi/1..
?
7
Unraveling the molecular pathogenesis of free sialic acid s..:
Aula, Nina
;
Jalanko, Anu
;
Aula, Pertti
.
Molecular Genetics and Metabolism. 77 (2002) 1-2 - p. 99-107 , 2002
Link:
https://doi.org/10.1016/..
?
8
Expression of Normal and Mutant GFP-Tagged y+L Amino Acid T..:
Toivonen, Minna
;
Mykkänen, Juha
;
Aula, Pertti
...
Biochemical and Biophysical Research Communications. 291 (2002) 5 - p. 1173-1179 , 2002
Link:
https://doi.org/10.1006/..
?
9
Prenatal detection of free sialic acid storage disease: gen..:
Salomäki, Pirjo
;
Aula, Nina
;
Juvonen, Vesa
..
Prenatal Diagnosis. 21 (2001) 5 - p. 354-358 , 2001
Link:
https://doi.org/10.1002/..
?
10
Database for the mutations of the Finnish disease heritage:..:
Sipilä, Kati
;
Aula, Pertti
Human Mutation. 19 (2001) 1 - p. 16-22 , 2001
Link:
https://doi.org/10.1002/..
?
11
Identification of SLC7A7, encoding y+LAT-1, as the lysinuri..:
Torrents, David
;
Mykkänen, Juha
;
Pineda, Marta
...
Nature Genetics. 21 (1999) 3 - p. 293-296 , 1999
Link:
https://doi.org/10.1038/..
?
12
A new gene, encoding an anion transporter, is mutated in si..:
Verheijen, Frans W.
;
Verbeek, Elly
;
Aula, Nina
...
Nature Genetics. 23 (1999) 4 - p. 462-465 , 1999
Link:
https://doi.org/10.1038/..
?
13
Spectrum of mutations in Finnish patients with Charcot‐Mari..:
Silander, Kaisa
;
Meretoja, Päivi
;
Juvonen, Vesa
...
Human Mutation. 12 (1998) 1 - p. 59-68 , 1998
Link:
https://doi.org/10.1002/..
?
14
Spectrum of mutations in Finnish patients with Charcot-Mari..:
Silander, Kaisa
;
Meretoja, Päivi
;
Juvonen, Vesa
...
Human Mutation. 12 (1998) 1 - p. 59-68 , 1998
Link:
https://doi.org/10.1002/..
?
15
Lysinuric Protein Intolerance (LPI) Gene Maps to the Long A..:
Lauteala, Tuija
;
Sistonen, Pertti
;
Savontaus, Marja-Liisa
...
The American Journal of Human Genetics. 60 (1997) 6 - p. 1479-1486 , 1997
Link:
https://doi.org/10.1086/..
1-15