Browsing Institute of Biomedical & Clinical Science by Author "Lupski, JR"
Now showing items 1-4 of 4
Issue Date | Title | Author(s) |
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30 November 2021 | Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency | Fasham, J; Lin, S; Ghosh, P; et al. |
29 August 2018 | Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa | Li, L; Jiao, X; D'Atri, I; et al. |
28 February 2017 | PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment | Zollo, M; Ahmed, M; Ferrucci, V; et al. |
30 January 2020 | Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism | Gunning, AC; Strucinska, K; Muñoz Oreja, M; et al. |