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- Journal Article
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- open access
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
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- Journal Article
- A1
- open access
The role of MCM9 in the etiology of Sertoli cell-only syndrome and premature ovarian insufficiency
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- Journal Article
- A2
- open access
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
- A2
- open access
Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases
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- Journal Article
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- open access
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis
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Blepharophimosis, ptosis, and epicanthus inversus syndrome
(2022) In GeneReviews -
- Journal Article
- A1
- open access
The genetic diagnosis of rare endocrine disorders of sex development and maturation : a survey among Endo-ERN centres
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- Journal Article
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Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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- Journal Article
- A1
- open access
GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141