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- 2023
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Mark
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
(
- Contribution to journal › Article
- 2022
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Mark
Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure
(
- Contribution to journal › Article
- 2020
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Mark
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations
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- Contribution to journal › Article
- 2019
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Mark
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants : An ENIGMA report
(
- Contribution to journal › Article
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Mark
Progression from islet autoimmunity to clinical type 1 diabetes is influenced by genetic factors : Results from the prospective TEDDY study
(
- Contribution to journal › Article
- 2018
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Mark
CM-Score : A validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe
(
- Contribution to journal › Article
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Mark
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant : Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
(
- Contribution to journal › Article
- 2017
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Mark
Common cancers share familial susceptibility : Implications for cancer genetics and counselling
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- Contribution to journal › Article
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Mark
Regulating the advertising of genetic tests in Europe : a balancing act
(
- Contribution to journal › Article
- 2014
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Mark
High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.
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- Contribution to journal › Article
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Mark
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
(
- Contribution to journal › Article
- 2013
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Mark
Risk of thyroid cancer in first-degree relatives of patients with non-medullary thyroid cancer by histology type and age at diagnosis: a joint study from five Nordic countries
(
- Contribution to journal › Article
- 2012
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Mark
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
(
- Contribution to journal › Article
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Mark
A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation
(
- Contribution to journal › Article
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Mark
Closing the case of APOE in multiple sclerosis : no association with disease risk in over 29 000 subjects
(
- Contribution to journal › Article
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Mark
Prostate cancer risk assessment model: a scoring model based on the Swedish Family-Cancer Database
(
- Contribution to journal › Article
- 2008
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Mark
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome
(
- Contribution to journal › Article
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Mark
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
(
- Contribution to journal › Article
- 2007
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Mark
Germline E-cadherin mutations in familial lobular breast cancer
(
- Contribution to journal › Article
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Mark
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents
(
- Contribution to journal › Article
- 2006
-
Mark
Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies
(
- Contribution to journal › Article
- 2005
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Mark
Classification of BRCA1 missense variants of unknown clinical significance
(
- Contribution to journal › Article
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Mark
A male-specific quantitative trait locus on 1p21 controlling human stature
(
- Contribution to journal › Article
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Mark
Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies
(
- Contribution to journal › Article
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Mark
Association of oestrogen receptor alpha gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone
(
- Contribution to journal › Article
- 2004
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Mark
Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes
(
- Contribution to journal › Article
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Mark
Familial renal cell cancer appears to have a recessive component
(
- Contribution to journal › Letter
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Mark
Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC
(
- Contribution to journal › Article
- 2002
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Mark
Genome screening of coeliac disease
(
- Contribution to journal › Article
- 2001
-
Mark
BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age
(
- Contribution to journal › Article