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- 2015
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Mark
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.
2015) In European Journal of Human Genetics(
- Contribution to journal › Article
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Mark
Heritability estimates on Hodgkin's lymphoma: a genomic- versus population-based approach.
(
- Contribution to journal › Article
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Mark
A genetic risk score for hypertension associates with the risk of ischemic stroke in a Swedish case-control study.
(
- Contribution to journal › Article
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Mark
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
2015) In European Journal of Human Genetics(
- Contribution to journal › Article
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Mark
Reply to Mendez et al : the 'extremely ancient' chromosome that still isn't
(
- Contribution to journal › Letter
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Mark
Whole-genome sequencing in newborn screening? : A statement on the continued importance of targeted approaches in newborn screening programmes
(
- Contribution to journal › Article
- 2014
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Mark
The 'extremely ancient' chromosome that isn't : a forensic bioinformatic investigation of Albert Perry's X-degenerate portion of the Y chromosome
(
- Contribution to journal › Article
- 2013
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Mark
Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations
(
- Contribution to journal › Article
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Mark
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
(
- Contribution to journal › Article
- 2012
-
Mark
Codon 72 polymorphism (rs1042522) of TP53 is associated with changes in diastolic blood pressure over time
(
- Contribution to journal › Article