| Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency | Human Molecular Genetics |  | | 2020 | 422 | 1 |
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| Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay | Genetics in Medicine |  | | 2018 | 589 | 381 |
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| Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 | Human molecular genetics | | | 2018 | 85 | 174 |
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| Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree | Human genomics | | | 2016 | 565 | 363 |
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