Results 91 to 100 of about 2,419 (158)

From co-creation to compounding value: A new model of rare disease science communication in China. [PDF]

Intractable Rare Dis Res
Chen Y.
europepmc   +1 more source

Lesch Nyhan syndrome.

Indian pediatrics, 1984
J M, Puliyel, M, Kumar
openaire   +1 more source

From presence to provenance: Building substantive infrastructure for China's rare disease ecosystem. [PDF]

Intractable Rare Dis Res
Yang R.
europepmc   +1 more source

Comprehensive CRISPR/Cas9-based mutagenesis identifies single-amino acid substitutions that abrogate SPEN function in X inactivation. [PDF]

Nat Commun
Kaufmann C, Sting S, Dai C, Wutz A.
europepmc   +1 more source

Modeling rare genetic disease with gene-edited induced pluripotent stem cells: relevance of the starting stock line. [PDF]

Stem Cells Transl Med
Dinasarapu AR, Sutcliffe DJ, Ozel E, Thite A, Grychowski L, Visser JE, Hess EJ, Kolk SM, Jinnah HA.   +8 more
europepmc   +1 more source

P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in a female via karyotype analysis

Genetics in Medicine Open
Joseph Biddle, Teresa Campbell, Alba Sanchis-Juan, Gabrielle Lemire, Lance Rodan, Melanie O'Leary, Christina Austin-Tse, Anne O'Donnell-Luria, Laurie Sadler   +8 more
doaj   +1 more source

Deep brain stimulation for the treatment of paediatric dystonia due to neuroanatomical abnormalities: a systematic review of efficacy and future perspectives. [PDF]

BMJ Neurol Open
Soliman Y, Figliomeni A, Lee H, Thorburn M, Ghosh S, Ramakonar H, Yau WY.   +6 more
europepmc   +1 more source

Progress in the research and pharmacoeconomic evaluation of drugs and devices for rare diseases in China. [PDF]

Intractable Rare Dis Res
Hu S.
europepmc   +1 more source

Epigenetic modulation of human neurobiological disorders: Lesch-Nyhan disease as a model disorder. [PDF]

AIMS Neurosci
Nguyen KV.
europepmc   +1 more source