Search details
1.
Diagnostic uncertainties, ethical tensions, and accounts of role responsibilities in genetic counseling communication.
J Genet Couns
; 29(6): 1159-1172, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32302042
2.
Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.
J Med Genet
; 55(10): 669-674, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29330337
3.
Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.
Clin Genet
; 92(4): 405-414, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28195393
4.
The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry.
Hered Cancer Clin Pract
; 12(1): 12, 2014.
Article
in English
| MEDLINE | ID: mdl-24790682
5.
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
J Med Genet
; 47(9): 579-85, 2010 Sep.
Article
in English
| MEDLINE | ID: mdl-20587412
6.
The perceived impact of the European registration system for genetic counsellors and nurses.
Eur J Hum Genet
; 25(9): 1075-1077, 2017 09.
Article
in English
| MEDLINE | ID: mdl-28513617
7.
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
Eur J Hum Genet
; 25(11): 1246-1252, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28875981
8.
A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.
Fam Cancer
; 14(3): 437-48, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-25860647
9.
The recognition of the profession of Genetic Counsellors in Europe.
Eur J Hum Genet
; 26(12): 1719-1720, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30254214
10.
Development of a registration system for genetic counsellors and nurses in health-care services in Europe.
Eur J Hum Genet
; 24(3): 312-4, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26531169
11.
A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts.
Fam Cancer
; 8(3): 179-86, 2009.
Article
in English
| MEDLINE | ID: mdl-19039682
12.
De novo Huntington disease caused by 26-44 CAG repeat expansion on a low-risk haplotype.
Neurology
; 81(12): 1099-100, 2013 Sep 17.
Article
in English
| MEDLINE | ID: mdl-23946314
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