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New noncoding base pair mutation at the identical locus as the original NCMD/MCDR1 in a Mexican family, suggesting a mutational hotspot
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- Journal Article
- A1
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ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes
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- Journal Article
- A1
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Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta
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- Journal Article
- A1
- open access
Galactokinase deficiency : lessons from the GalNet registry
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- Journal Article
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A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)
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- Journal Article
- A2
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A synchronous papillary and follicular thyroid carcinoma presenting as a large toxic nodule in a female adolescent
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Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency
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Lessons learned from 40 novel PIGA patients and a review of the literature
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Non-neuronal expression of SARS-CoV-2 entry genes in the olfactory system suggests mechanisms underlying COVID-19-associated anosmia
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Population pharmacokinetics and pharmacogenetics of ritonavir-boosted darunavir in the presence of raltegravir or tenofovir disoproxil fumarate/emtricitabine in HIV-infected adults and the relationship with virological response : a sub-study of the NEAT001/ANRS143 randomized trial