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- 2024
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Mark
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants
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- Contribution to journal › Article
- 2022
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Mark
Silent variant in F8:c.222G>T (p.Thr74Thr) causes a partial exon skipping in a patient with mild hemophilia A
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- Contribution to journal › Article
- 2020
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Mark
Problems in variation interpretation guidelines and in their implementation in computational tools
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- Contribution to journal › Article
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Mark
Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis
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- Contribution to journal › Article
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Mark
Germline whole genome sequencing in pediatric oncology in Denmark—Practitioner perspectives
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- Contribution to journal › Article
- 2019
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Mark
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
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- Contribution to journal › Article
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Mark
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy
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- Contribution to journal › Article
- 2014
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Mark
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
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- Contribution to journal › Article
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Mark
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.
(
- Contribution to journal › Article