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Pain in the Ehlers–Danlos syndromes : mechanisms, models, and challenges
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Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe
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Species-specific effects of thermal stress on the expression of genetic variation across a diverse group of plant and animal taxa under experimental conditions
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- Journal Article
- A1
- open access
Identification of non-canonical translation products in C. elegans using tandem mass spectrometry
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- Journal Article
- A1
- open access
Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures
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- Journal Article
- A1
- open access
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
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- Journal Article
- A1
- open access
Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations
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Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
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- Journal Article
- A1
- open access
Genetic counseling in the context of Bangladesh : current scenario, challenges, and a framework for genetic service implementation