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- 2022
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Mark
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
(
- Contribution to journal › Article
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Mark
A new missense variant in exon 7 of the ABO gene, c.662G>A, in a family with B
w phenotype.
(
- Contribution to journal › Article
- 2021
-
Mark
Treatment outcomes in persons with severe haemophilia B in the Nordic region : The B-NORD study
(
- Contribution to journal › Article
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Mark
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
(
- Contribution to journal › Article
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Mark
Congenital stationary night blindness : an update and review of the disease spectrum in Saudi Arabia
(
- Contribution to journal › Scientific review
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Mark
AXL Knock-Out in SNU475 Hepatocellular Carcinoma Cells Provides Evidence for Lethal Effect Associated with G2 Arrest and Polyploidization
(
- Contribution to journal › Article
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Mark
The European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI)-clinical phenotypes and their predictors based on a cohort of 1000 patients
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- Contribution to journal › Article
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Mark
Synovial fluid neutrophils in oligoarticular juvenile idiopathic arthritis have an altered phenotype and impaired effector functions
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- Contribution to journal › Article
- 2020
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Mark
Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?
(
- Contribution to journal › Debate/Note/Editorial
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Mark
Three-dimensional single-cell imaging for the analysis of RNA and protein expression in intact tumour biopsies
(
- Contribution to journal › Article