From co-creation to compounding value: A new model of rare disease science communication in China. [PDF]
Intractable Rare Dis ResChen Y.
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From presence to provenance: Building substantive infrastructure for China's rare disease ecosystem. [PDF]
Intractable Rare Dis ResYang R.
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Comprehensive CRISPR/Cas9-based mutagenesis identifies single-amino acid substitutions that abrogate SPEN function in X inactivation. [PDF]
Nat CommunKaufmann C, Sting S, Dai C, Wutz A.
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Modeling rare genetic disease with gene-edited induced pluripotent stem cells: relevance of the starting stock line. [PDF]
Stem Cells Transl MedDinasarapu AR +8 more
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P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in a female via karyotype analysis
Genetics in Medicine OpenJoseph Biddle +8 more
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Deep brain stimulation for the treatment of paediatric dystonia due to neuroanatomical abnormalities: a systematic review of efficacy and future perspectives. [PDF]
BMJ Neurol OpenSoliman Y +6 more
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Progress in the research and pharmacoeconomic evaluation of drugs and devices for rare diseases in China. [PDF]
Intractable Rare Dis ResHu S.
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Epigenetic modulation of human neurobiological disorders: Lesch-Nyhan disease as a model disorder. [PDF]
AIMS NeurosciNguyen KV.
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Uncovering Proteomic and Biochemical Alterations in Plasma from Lesch-Nyhan Disease Patients. [PDF]
Cell Mol NeurobiolJaved S +8 more
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