Results 261 to 270 of about 4,553,133 (313)

Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseases. [PDF]

Genome Med
Schilder BM, Murphy KB, Dash H, Zhang Y, Gordon-Smith R, Chapman J, Otani M, Skene NG.   +7 more
europepmc   +1 more source

Correction: Estimating mortality in rare diseases using a population-based registry, 2002 through 2019

Orphanet Journal of Rare Diseases
Monica Mazzucato, Laura Visonà Dalla Pozza, Cinzia Minichiello, Ema Toto, Andrea Vianello, Paola Facchin   +5 more
doaj   +1 more source

Integrating rare diseases into Africa's digital health strategies. [PDF]

PLOS Digit Health
Gamba SF, Magili M.
europepmc   +1 more source

The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis. [PDF]

JMIR Med Inform
Lucano C, Lagorce D, Olry A, Ali H, Lanneau V, De Carvalho M, Dilsizoglu Senol A, Fructuoso M, Gaillard E, Gaillard MC, Mihic S, Tannoury M, Sauvage F, Rodwell C, Maiella S, Hanauer M, Rath A.   +16 more
europepmc   +1 more source

Editorial: Molecular mechanisms and precision medicine in rare diseases. [PDF]

Front Mol Biosci
Rodriguez Cetina Biefer H, Elkhal A, Moutaoufik MT.   +2 more
europepmc   +1 more source

New Approaches to Clinical Trials for Rare Diseases: Decentralized Trial Design for Neurofibromatosis Type 1 and Schwannomatosis. [PDF]

Cancers (Basel)
Merker VL, Ahlawat S, Avery RA, Bradford D, Gross AM, Janusz J, Lessing AJ, Manth L, McManus ML, Oberlander B, Pichard DC, Riter W, Sarin KY, Sheard S, Sundby RT, Walsh KS, Wolters PL, Widemann BC, Plotkin SR.   +18 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

Systematic review protocol on evidence synthesis for health technology decisions in ultra-rare diseases. [PDF]

Syst Rev
Fiorini Monteiro Novo MA, Simões Correa Galendi J, Cardoso Nunes Marinho J, Nascimento Silva S, Santos Codogno J, Rosa Gobette JB, Hipólito Dos Santos Costa E, Dos Santos Nunes-Nogueira V.   +7 more
europepmc   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

EndoCompass Project: Rare Diseases in Endocrinology.

Horm Res Paediatr
Pereira AM, Hiort O.
europepmc   +1 more source