Gå till sökfältet
Gå till sidans huvudinnehåll
Gå till tillgänglighetsredogörelsen
Forskning.fi
Menu
Suomeksi
På svenska
In English
Ingångssida
Sökning
Vetenskaps- och innovationspolitik
Vetenskaps- och forskningsnyheter
På svenska
- 1115 results
Publikationer
1115
Utlysningar
0
Beviljade finansiering
77
Personer
1
Data
21
Infrastrukturer
0
Organisationer
0
Projekt
1
Publikationer -
1 115
sökresultat
Gå till sökresultaten
Visa som bild
Begränsa sökning
Resultaten visas 1 - 10 / 1115
10
50
100
resultat / per sida
Vilka
publikations
uppgifter finns i tjänsten?
Icon
Publikationens namn
Upphovspersoner
Publikationskanal
År
Publicationer information ikon
Mutation
update for the ACTN2 gene
Referentgranskad
Öppen tillgång
DOI
10.1002/humu.24470
Ranta-aho, Johanna; Olive, Montse; Vandroux, Marie; Roticiani, Giorgia; Dominguez, Cristina; Johari,...
Human
mutation
2022
Publicationer information ikon
Somatic MED12 Nonsense
Mutation
Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry
Referentgranskad
Öppen tillgång
DOI
10.1002/humu.23157
Heikkinen, Tuomas; Kämpjärvi, Kati; Keskitalo, Salla; von Nandelstadh, Pernilla; Liu, Xiaonan; Ranta...
Human
mutation
2017
Publicationer information ikon
Mutation
Update:The Spectra of Nebulin Variants and Associated Myopathies
Referentgranskad
DOI
10.1002/humu.22693
Lehtokari, Vilma-Lotta; Kiiski, Kirsi; Sandaradura, Sarah A.; Laporte, Jocelyn; Repo, Pauliina; Frey...
Human
mutation
2014
Publicationer information ikon
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2
mutation
carriers
Referentgranskad
DOI
10.1002/humu.22025
Ramus, Susan J.; Antoniou, Antonis C.; Kuchenbaecker, Karoline B.; Soucy, Penny; Beesley, Jonathan; ...
Human
mutation
2012
Publicationer information ikon
Mutation
Spectrum in the Large GTPase Dynamin 2, and Genotype-Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy
Referentgranskad
DOI
10.1002/humu.22067
Boehm, Johann; Biancalana, Valerie; DeChene, Elizabeth T.; Bitoun, Marc; Pierson, Christopher R.; Sc...
Human
mutation
2012
Publicationer information ikon
Mutation
Update and Genotype-Phenotype Correlations of Novel and Previously Described
Mutation
s in TPM2 and TPM3 Causing Congenital Myopathies
Referentgranskad
DOI
10.1002/humu.22554
Marttila, Minttu; Lehtokari, Vilma-Lotta; Marston, Steven; Nyman, Tuula A.; Barnerias, Christine; Be...
Human
mutation
2014
Publicationer information ikon
Update of the
Mutation
Spectrum and Clinical Correlations of over 360
Mutation
s in Eight Genes that Underlie the Neuronal Ceroid Lipofuscinoses
Referentgranskad
DOI
10.1002/humu.21624
Kousi, Maria; Lehesjoki, Anna-Elina; Mole, Sara E.
Human
mutation
2012
Publicationer information ikon
LMNA
Mutation
c.917T > G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging
Referentgranskad
DOI
10.1002/humu.22793
Alastalo, Tero-Pekka; West, Gun; Li, Song-Ping; Keinanen, Anni; Helenius, Mikko; Tyni, Tiina; Lapatt...
human
mutation
2015
Publicationer information ikon
Mutation
al spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2
mutation
s
Referentgranskad
Öppen tillgång
DOI
10.1002/humu.23406
EMBRACE; GEMO Study Collaborators; HEBON; kConFab Investigators; Rebbeck, Timothy R.; Friebel, Tara ...
Human
mutation
2018
Publicationer information ikon
Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines
Referentgranskad
Öppen tillgång
DOI
10.1002/humu.24117
PedNet Study Grp; Andersson, Nadine G.; Labarque, Veerle; Letelier, Anna; Mancuso, Maria Elisa; Bueh...
Human
mutation
2020
Mutation
update for the ACTN2 gene
Referentgranskad
Öppen tillgång
DOI
10.1002/humu.24470
2022
Somatic MED12 Nonsense
Mutation
Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry
Referentgranskad
Öppen tillgång
DOI
10.1002/humu.23157
2017
Mutation
Update:The Spectra of Nebulin Variants and Associated Myopathies
Referentgranskad
DOI
10.1002/humu.22693
2014
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2
mutation
carriers
Referentgranskad
DOI
10.1002/humu.22025
2012
Mutation
Spectrum in the Large GTPase Dynamin 2, and Genotype-Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy
Referentgranskad
DOI
10.1002/humu.22067
2012
Mutation
Update and Genotype-Phenotype Correlations of Novel and Previously Described
Mutation
s in TPM2 and TPM3 Causing Congenital Myopathies
Referentgranskad
DOI
10.1002/humu.22554
2014
Update of the
Mutation
Spectrum and Clinical Correlations of over 360
Mutation
s in Eight Genes that Underlie the Neuronal Ceroid Lipofuscinoses
Referentgranskad
DOI
10.1002/humu.21624
2012
LMNA
Mutation
c.917T > G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging
Referentgranskad
DOI
10.1002/humu.22793
2015
Mutation
al spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2
mutation
s
Referentgranskad
Öppen tillgång
DOI
10.1002/humu.23406
2018
Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines
Referentgranskad
Öppen tillgång
DOI
10.1002/humu.24117
2020
Föregående
1
2
3
4
5
Nästa
Resultaten visas 1 - 10 / 1115
Sida 1
Sort