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Items: 19

1.

Incentivizing Therapies for Rare Diseases-Reply.

Thomas S, Caplan A.

JAMA. 2019 Aug 6;322(5):465. doi: 10.1001/jama.2019.6958. No abstract available.

PMID:
31386129
2.

Incentivizing Therapies for Rare Diseases.

Karas L.

JAMA. 2019 Aug 6;322(5):464-465. doi: 10.1001/jama.2019.6954. No abstract available.

PMID:
31386125
3.

A rare disease; congenital pulmonary airway malformation in an adult.

Özçelik N, Özyurt S, Yılmaz Kara B, Şahin Ü.

Tuberk Toraks. 2019 Mar;67(1):71-76. doi: 10.5578/tt.68095.

PMID:
31130138
4.

A rare case of bilateral choroidal coloboma within deep posterior staphyloma associated with macular hole retinal detachment.

Venkatesh K, Khanna N, Sivaranjani S, Ganesh S.

Indian J Ophthalmol. 2019 May;67(5):699-700. doi: 10.4103/ijo.IJO_729_18.

5.

Unusual photodermatosis with lichenoid eruption and apoptosis in a 33-year-old female.

Montoya JM, DiCaudo DJ, Mangold AR, Swanson DL.

Acta Dermatovenerol Alp Pannonica Adriat. 2019 Mar;28(1):47-48.

6.

Atrophoderma of Pasini and Pierini in a young adult: a case report.

Begolli Gerqari A, Ferizi M, Gerqari I.

Acta Dermatovenerol Alp Pannonica Adriat. 2019 Mar;28(1):45-46. Review.

7.

Isolated collagenoma on the face: a rare occurrence.

Shruti S, Siraj F, Khuller G, Saxena A.

Acta Dermatovenerol Alp Pannonica Adriat. 2019 Mar;28(1):41-43. Review.

8.

Successful treatment of extensive uremic calciphylaxis with intravenous sodium thiosulfate and its potential in treating various diseases of pathologic calcification.

Burja S, Jovic A, Ekart R, Piko N, Miljkovic J, Breznik V.

Acta Dermatovenerol Alp Pannonica Adriat. 2019 Mar;28(1):37-40. Review.

9.

Rare diseases prompted care in ancient times.

Curry A.

Science. 2019 Mar 15;363(6432):1136. doi: 10.1126/science.363.6432.1136. No abstract available.

PMID:
30872501
10.

From gene to treatment: supporting rare disease translational research through model systems.

Hmeljak J, Justice MJ.

Dis Model Mech. 2019 Feb 22;12(2). pii: dmm039271. doi: 10.1242/dmm.039271.

11.

Achieving orphan designation for placental insufficiency: annual incidence estimations in Europe.

Spencer R, Rossi C, Lees M, Peebles D, Brocklehurst P, Martin J, Hansson SR, Hecher K, Marsal K, Figueras F, Gratacos E, David AL; EVERREST Consortium.

BJOG. 2019 Aug;126(9):1157-1167. doi: 10.1111/1471-0528.15590. Epub 2019 Feb 6.

PMID:
30576053
12.

Therapeutic innovation in adult-onset Still's disease (and other rare inflammatory disorders): how to secure evidence-based medicine?

Guilpain P, Le Quellec A, Maria ATJ.

Ann Rheum Dis. 2018 Dec;77(12):1699-1701. doi: 10.1136/annrheumdis-2018-213106. Epub 2018 Jun 2. No abstract available.

PMID:
29860231
13.

Rhabdomyolysis-Associated Acute Kidney Injury.

Esposito P, Estienne L, Serpieri N, Ronchi D, Comi GP, Moggio M, Peverelli L, Bianzina S, Rampino T.

Am J Kidney Dis. 2018 Jun;71(6):A12-A14. doi: 10.1053/j.ajkd.2018.03.009. No abstract available. Erratum in: Am J Kidney Dis. 2018 Sep;72(3):468.

14.

Pigmented mammary Paget's disease without underlying carcinoma.

Shiomi T, Ogata D, Iwata M, Arai E, Tsuchida T.

J Dermatol. 2018 Nov;45(11):e321-e322. doi: 10.1111/1346-8138.14461. Epub 2018 May 24. No abstract available.

PMID:
29797528
15.

Extracting cancer mortality statistics from death certificates: A hybrid machine learning and rule-based approach for common and rare cancers.

Koopman B, Zuccon G, Nguyen A, Bergheim A, Grayson N.

Artif Intell Med. 2018 Jul;89:1-9. doi: 10.1016/j.artmed.2018.04.011. Epub 2018 May 10.

PMID:
29754799
16.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

17.

The Clinical and Immunologic Features of Patients With Combined Anti-GBM Disease and Castleman Disease.

Gu QH, Jia XY, Hu SY, Wang SX, Zou WZ, Cui Z, Zhao MH.

Am J Kidney Dis. 2018 Jun;71(6):904-908. doi: 10.1053/j.ajkd.2018.01.029. Epub 2018 Mar 3.

PMID:
29510921
18.

Bronchiectasis: Phenotyping an Orphan Disease.

Tino G.

Am J Respir Crit Care Med. 2018 Jun 1;197(11):1371-1373. doi: 10.1164/rccm.201802-0211ED. No abstract available.

PMID:
29412693
19.

eRAM: encyclopedia of rare disease annotations for precision medicine.

Jia J, An Z, Ming Y, Guo Y, Li W, Liang Y, Guo D, Li X, Tai J, Chen G, Jin Y, Liu Z, Ni X, Shi T.

Nucleic Acids Res. 2018 Jan 4;46(D1):D937-D943. doi: 10.1093/nar/gkx1062.

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