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 Julkaisujen tiedon ikoni

Mutation update for the ACTN2 gene

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/humu.24470
Ranta-aho, Johanna; Olive, Montse; Vandroux, Marie; Roticiani, Giorgia; Dominguez, Cristina; Johari,...
Human mutation2022 Julkaisujen tiedon ikoni

Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/humu.23157
Heikkinen, Tuomas; Kämpjärvi, Kati; Keskitalo, Salla; von Nandelstadh, Pernilla; Liu, Xiaonan; Ranta...
Human mutation2017 Julkaisujen tiedon ikoni

Mutation Update:The Spectra of Nebulin Variants and Associated Myopathies

Vertaisarvioitu
DOI
10.1002/humu.22693
Lehtokari, Vilma-Lotta; Kiiski, Kirsi; Sandaradura, Sarah A.; Laporte, Jocelyn; Repo, Pauliina; Frey...
Human mutation2014 Julkaisujen tiedon ikoni

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

Vertaisarvioitu
DOI
10.1002/humu.22025
Ramus, Susan J.; Antoniou, Antonis C.; Kuchenbaecker, Karoline B.; Soucy, Penny; Beesley, Jonathan; ...
Human mutation2012 Julkaisujen tiedon ikoni

Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype-Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy

Vertaisarvioitu
DOI
10.1002/humu.22067
Boehm, Johann; Biancalana, Valerie; DeChene, Elizabeth T.; Bitoun, Marc; Pierson, Christopher R.; Sc...
Human mutation2012 Julkaisujen tiedon ikoni

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Vertaisarvioitu
DOI
10.1002/humu.22554
Marttila, Minttu; Lehtokari, Vilma-Lotta; Marston, Steven; Nyman, Tuula A.; Barnerias, Christine; Be...
Human mutation2014 Julkaisujen tiedon ikoni

Update of the Mutation Spectrum and Clinical Correlations of over 360 Mutations in Eight Genes that Underlie the Neuronal Ceroid Lipofuscinoses

Vertaisarvioitu
DOI
10.1002/humu.21624
Kousi, Maria; Lehesjoki, Anna-Elina; Mole, Sara E.
Human mutation2012 Julkaisujen tiedon ikoni

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

Vertaisarvioitu
DOI
10.1002/humu.22793
Alastalo, Tero-Pekka; West, Gun; Li, Song-Ping; Keinanen, Anni; Helenius, Mikko; Tyni, Tiina; Lapatt...
human mutation2015 Julkaisujen tiedon ikoni

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/humu.23406
EMBRACE; GEMO Study Collaborators; HEBON; kConFab Investigators; Rebbeck, Timothy R.; Friebel, Tara ...
Human mutation2018 Julkaisujen tiedon ikoni

Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/humu.24117
PedNet Study Grp; Andersson, Nadine G.; Labarque, Veerle; Letelier, Anna; Mancuso, Maria Elisa; Bueh...
Human mutation2020

Mutation update for the ACTN2 gene

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/humu.24470
2022

Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/humu.23157
2017

Mutation Update:The Spectra of Nebulin Variants and Associated Myopathies

Vertaisarvioitu
DOI
10.1002/humu.22693
2014

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

Vertaisarvioitu
DOI
10.1002/humu.22025
2012

Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype-Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy

Vertaisarvioitu
DOI
10.1002/humu.22067
2012

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Vertaisarvioitu
DOI
10.1002/humu.22554
2014

Update of the Mutation Spectrum and Clinical Correlations of over 360 Mutations in Eight Genes that Underlie the Neuronal Ceroid Lipofuscinoses

Vertaisarvioitu
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

Vertaisarvioitu
DOI
10.1002/humu.22793
2015

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/humu.23406
2018

Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/humu.24117
2020