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Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts
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Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
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- Journal Article
- A1
- open access
Galactokinase deficiency : lessons from the GalNet registry
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- Journal Article
- A1
- open access
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm
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Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc
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- Journal Article
- A1
- open access
Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
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- Journal Article
- A1
- open access
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
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A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations
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- Journal Article
- A1
- open access
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
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Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen