Displaying results 1 - 10 / 5924
results / page
What publication information is included in the service?
Publication name
Authors
Publication channel
Year

Population-based study of recurrent DNA damage response gene variants in breast cancer cases

Peer-reviewed
Open access
DOI
10.1007/s10549-025-07634-5
Tervasmäki, Anna; Kumpula, Timo A.; Grip, Mervi; Koivuluoma, Susanna; Seuranen, Meeri; Winqvist, Rob...
Breast cancer research and treatment2025

COMT gene locus:new functional variants

Peer-reviewed
Meloto, Carolina B.; Segall, Samantha K.; Smith, Shad; Parisien, Marc; Shabalina, Svetlana A.; Rizza...
Pain2015

Cardiomyopathy-Associated Gene Variants in Atrial Fibrillation

Peer-reviewed
DOI
10.1001/jamacardio.2025.0460
Wijdeveld, Leonoor F. J. M.; Ajufo, Ezimamaka; Challa, Saketh P.; Rämö, Joel T.; Wang, Xin; Kany, Sh...
JAMA cardiology2025

PDPR Gene Variants Predisposing to Papillary Thyroid Cancer

Peer-reviewed
DOI
10.1089/thy.2023.0560
Brock, Pamela; Sevigny, Myriam; Liyanarachchi, Sandya; Comiskey Jr, Daniel F.; Li, Wei; Saarinen, Sa...
Thyroid2024

Copy number variants in the kallikrein gene cluster

Peer-reviewed
Open access
DOI
10.1371/journal.pone.0069097
Lindahl Pernilla; Säll Torbjörn; Bjartell Anders; Johansson Anna M; Lilja Hans; Halldén Christer
PLoS One2013

ACE GENE VARIANTS AND SARCOIDOSIS IN A FINNISH POPULATION

Peer-reviewed
Lahtela, Elisa; Wennerstrom, Annika; Pietinalho, Anne; Petrek, Martin; Kolek, Vitezslav; Lokki, Marj...
Sarcoidosis vasculitis and diffuse lung diseases2017

FUT2 Variants Confer Susceptibility to Familial Otitis Media

Peer-reviewed
DOI
10.1016/j.ajhg.2018.09.010
UWCMG; Santos-Cortez, Regie Lyn P.; Chiong, Charlotte M.; Frank, Daniel N.; Ryan, Allen F.; Giese, A...
American journal of human genetics2018

Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)

Peer-reviewed
DOI
10.1038/ejhg.2010.140
Västinsalo, Hanna; Jalkanen, Reetta; Dinculescu, Astra; Isosomppi, Juha; Geller, Scott; Flannery, Jo...
European journal of human genetics2011

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants

Peer-reviewed
Open access
DOI
10.1002/humu.23117
Tricarico, Rossella; Kasela, Mariann; Mareni, Cristina; Thompson, Bryony A.; Drouet, Aurelie; Stader...
Human mutation2017

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

Peer-reviewed
Open access
DOI
10.3390/ijms232415906
Onore, Maria Elena; Savarese, Marco; Picillo, Esther; Passamano, Luigia; Nigro, Vincenzo; Politano, ...
International Journal of Molecular Sciences2022

Population-based study of recurrent DNA damage response gene variants in breast cancer cases

Peer-reviewed
Open access
DOI
10.1007/s10549-025-07634-5
2025

COMT gene locus:new functional variants

Peer-reviewed
2015

Cardiomyopathy-Associated Gene Variants in Atrial Fibrillation

Peer-reviewed
DOI
10.1001/jamacardio.2025.0460
2025

PDPR Gene Variants Predisposing to Papillary Thyroid Cancer

Peer-reviewed
DOI
10.1089/thy.2023.0560
2024

Copy number variants in the kallikrein gene cluster

Peer-reviewed
Open access
DOI
10.1371/journal.pone.0069097
2013

ACE GENE VARIANTS AND SARCOIDOSIS IN A FINNISH POPULATION

Peer-reviewed
2017

FUT2 Variants Confer Susceptibility to Familial Otitis Media

Peer-reviewed
DOI
10.1016/j.ajhg.2018.09.010
2018

Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)

Peer-reviewed
DOI
10.1038/ejhg.2010.140
2011

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants

Peer-reviewed
Open access
DOI
10.1002/humu.23117
2017

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

Peer-reviewed
Open access
DOI
10.3390/ijms232415906
2022