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Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines
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- Journal Article
- A1
- open access
Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients : a national registry study
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Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes : expanding the clinical phenotype based on additional case reports
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- Journal Article
- A1
- open access
Functional analyses of two novel LRRK2 pathogenic variants in familial Parkinson′s disease
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- Journal Article
- A1
- open access
Application of an ultrasensitive NGS-based blood test for the diagnosis of early-stage lung cancer : sensitivity, a hurdle still difficult to overcome
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High genetic diversity and gene flow detected in populations of Bombus morio from South Brazil
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- Journal Article
- A1
- open access
Root system size and root hair length are key phenes for nitrate acquisition and biomass production across natural variation in Arabidopsis
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Activity, selection response and molecular mode of action of the isoxazoline afoxolaner in Tetranychus urticae
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- Journal Article
- A2
- open access
The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene
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Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency