Results 101 to 110 of about 912,676 (170)

Histone acetylation and methylation in rare diseases: from molecular mechanisms to clinical presentations. [PDF]

Front Cell Dev Biol
Akman B, Gürsoy S, Gençpınar P, Polat Aİ, Hız AS, Oktay Y, Barakat TS, Özbek U, Erkek-Ozhan S.   +8 more
europepmc   +1 more source

GREGoR: accelerating genomics for rare diseases. [PDF]

Nature
Dawood M, Heavner B, Wheeler MM, Ungar RA, LoTempio J, Wiel L, Berger S, Bernstein JA, Chong JX, Délot EC, Eichler EE, Lupski JR, Shojaie A, Talkowski ME, Wagner AH, Wei CL, Wellington C, Wheeler MT, GREGoR Partner Members, Carvalho CMB, Gibbs RA, Gifford CA, May S, Miller DE, Rehm HL, Samocha KE, Sedlazeck FJ, Vilain E, O'Donnell-Luria A, Posey JE, Chadwick LH, Bamshad MJ, Montgomery SB, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium.   +33 more
europepmc   +1 more source

Automating evaluation of LLM-generated responses to patient questions about rare diseases. [PDF]

JAMIA Open
Zhao M, Oh IY, Gupta A, Cohen-Cutler S, Harmoney KM, Lai AM, Sisk BA.   +6 more
europepmc   +1 more source

Case Report: Diagnostic odyssey in rare diseases: when genetic variants are misinterpreted. [PDF]

Front Pediatr
Montero-Hernández M, Pérez-Moix N, Carrascosa-Romero MC, López-Garrido MP, Sánchez-Sánchez F.   +4 more
europepmc   +1 more source

Can We Trust PAICs in Rare Diseases? Methodological Challenges and Limitations. [PDF]

J Mark Access Health Policy
Parkitny M, Aballéa S, Wojciechowski P, Toumi M.   +3 more
europepmc   +1 more source

Informing Dose for Pediatric Rare Diseases-A Survey of Recent Orphan Drugs Approvals. [PDF]

Clin Transl Sci
Fletcher EP, Kim C, Mei H, AbuAsal B, Samuels S, Madabushi R, Ramamoorthy A.   +6 more
europepmc   +1 more source

A practical framework to approach the development and evaluation of patient registries for rare diseases. [PDF]

Orphanet J Rare Dis
Vaishnaw MS, Richesson R.
europepmc   +1 more source

Regulatory sandboxes: A new frontier for rare disease therapies

Rare
Galliano Zanello, Violeta Stoyanova-Beninska, Oxana Iliach, Daniel Scherman, Samantha Parker, David A. Pearce   +5 more
doaj   +1 more source

Policy evaluation frameworks for rare diseases: a scoping review. [PDF]

BMC Health Serv Res
Çakmak Barsbay M, Aydamak MY.
europepmc   +1 more source

Macrophage Extracellular Vesicles: Therapeutic Strategies for Corneal Fibrosis in Rare Diseases. [PDF]

Biomolecules
Li H, Loewinger AS, Roshandel D, Fang Y, You J, Daniell M, Yang GN.   +6 more
europepmc   +1 more source