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Beyond the usual suspects : autosomal recessive forms of childhood-onset thoracic aortic disease
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- Journal Article
- A1
- open access
Whole exome sequencing as a screening tool in dogs : a pilot study
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- Journal Article
- A1
- open access
Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies
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- Journal Article
- A1
- open access
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort
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- Journal Article
- A1
- open access
Cracking rare disorders : a new minimally invasive RNA-seq protocol
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- Journal Article
- A1
- open access
A nationwide comprehensive genomic profiling and molecular tumor board platform for patients with advanced cancer
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- Journal Article
- A1
- open access
Increased TMEM106B levels lead to lysosomal dysfunction which affects synaptic signaling and neuronal health
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A new era in the science and care of kidney diseases
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- Journal Article
- A1
- open access
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development
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- Journal Article
- A1
- open access
A systematic review and cross-database analysis of single nucleotide polymorphisms underlying hip morphology and osteoarthritis reveals shared mechanisms