Log in

Relevant bibliographies by topics / Rare diseases / Journal articles

To see the other types of publications on this topic, follow the link: Rare diseases.

Journal articles on the topic 'Rare diseases'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 journal articles for your research on the topic 'Rare diseases.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.

1

Jones, Lyn H. "Rare diseases." Future Medicinal Chemistry 6, no. 9 (2014): 969–70. http://dx.doi.org/10.4155/fmc.14.59.

Full text

APA, Harvard, Vancouver, ISO, and other styles

2

Lewis, Terri A. "Rare Diseases." Neurology Now 8, no. 3 (2012): 12. http://dx.doi.org/10.1097/01222928-201208030-00007.

Full text

APA, Harvard, Vancouver, ISO, and other styles

3

ROBERTS;, C. M., A. E. TATTERSFIELD, and R. M. DU BOIS. "Rare diseases." Thorax 54, no. 12 (1999): 1140. http://dx.doi.org/10.1136/thx.54.12.1140b.

Full text

APA, Harvard, Vancouver, ISO, and other styles

4

Winter, George. "Rare diseases." Journal of Prescribing Practice 6, no. 4 (2024): 152–53. http://dx.doi.org/10.12968/jprp.2024.6.4.152.

Full text

APA, Harvard, Vancouver, ISO, and other styles

5

The Lancet Neurology. "Rare advances for rare diseases." Lancet Neurology 16, no. 1 (2017): 1. http://dx.doi.org/10.1016/s1474-4422(16)30352-0.

Full text

APA, Harvard, Vancouver, ISO, and other styles

6

Anderson, Chris. "Rare Parents Tackling Rare Diseases." Inside Precision Medicine 9, S1 (2022): 6–13. http://dx.doi.org/10.1089/ipm.09.s1.02.

Full text

APA, Harvard, Vancouver, ISO, and other styles

7

Başaran, Özge, Yelda Bilginer, and Seza Özen. "Rare Autoinflammatory Diseases." Turkish Archives of Pediatrics 57, no. 1 (2021): 18–25. http://dx.doi.org/10.5152/turkarchpediatr.2022.21303.

Full text

APA, Harvard, Vancouver, ISO, and other styles

8

Limongelli, Giuseppe, Emanuele Monda, Michele Lioncino, and Eduardo Bossone. "Rare Cardiovascular Diseases." Heart Failure Clinics 18, no. 1 (2022): i. http://dx.doi.org/10.1016/s1551-7136(21)00101-x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

9

Podolec, Piotr. "Rare cardiovascular diseases." European Heart Journal 38, no. 43 (2017): 3190–92. http://dx.doi.org/10.1093/eurheartj/ehx611.

Full text

APA, Harvard, Vancouver, ISO, and other styles

10

Sburlan, Elena Angelica, Liliana-Mary Voinea, Cristina Alexandrescu, et al. "Rare ophthalmology diseases." romanian journal of ophthalmology 63, no. 1 (2019): 10–14. http://dx.doi.org/10.22336/rjo.2019.3.

Full text

APA, Harvard, Vancouver, ISO, and other styles

11

Lougheed, T. "Rare diseases reconsidered." Canadian Medical Association Journal 185, no. 8 (2013): E315—E316. http://dx.doi.org/10.1503/cmaj.109-4456.

Full text

APA, Harvard, Vancouver, ISO, and other styles

12

du Bois, Roland M. "Rare Lung Diseases." American Journal of Respiratory and Critical Care Medicine 166, no. 9 (2002): 1157–58. http://dx.doi.org/10.1164/rccm.2208002.

Full text

APA, Harvard, Vancouver, ISO, and other styles

13

Dietrich, Christoph F. "Rare Biliopancreatic Diseases." Ultrasound in Medicine & Biology 43 (2017): S152. http://dx.doi.org/10.1016/j.ultrasmedbio.2017.08.1500.

Full text

APA, Harvard, Vancouver, ISO, and other styles

14

Ekins, Sean. "Collecting rare diseases." F1000Research 3 (October 31, 2014): 260. http://dx.doi.org/10.12688/f1000research.5577.1.

Full text

Abstract:

This editorial introduces the F1000Research rare disease collection. It is common knowledge that for new treatments to be successful there has to be a partnership between the many interested parties such as the patient, advocate, disease foundations, the academic scientists, venture funding organizations, biotech companies, pharmaceutical companies, NIH, and the FDA. Our intention is to provide a forum for discussion and dissemination of any rare disease related topics that will advance scientific understanding and progress to treatments.

APA, Harvard, Vancouver, ISO, and other styles

15

Groft, Stephen C. "Rare Diseases Research." Chest 144, no. 1 (2013): 16–23. http://dx.doi.org/10.1378/chest.13-0606.

Full text

APA, Harvard, Vancouver, ISO, and other styles

16

Tattersfield, A. E., and R. M. du Bois. "Rare diseases: Introduction." Thorax 54, no. 3 (1999): 253. http://dx.doi.org/10.1136/thx.54.3.253.

Full text

APA, Harvard, Vancouver, ISO, and other styles

17

Sahin, Mustafa. "Adopting Rare Diseases." Cell 163, no. 4 (2015): 786–87. http://dx.doi.org/10.1016/j.cell.2015.10.045.

Full text

APA, Harvard, Vancouver, ISO, and other styles

18

Mitka, Mike. "Rare Pediatric Diseases." JAMA 304, no. 10 (2010): 1060. http://dx.doi.org/10.1001/jama.2010.1283.

Full text

APA, Harvard, Vancouver, ISO, and other styles

19

SCHWARTZ, PETER J., SILVIA G. PRIORI, and CARLO NAPOLITANO. "How Really Rare Are Rare Diseases?:." Journal of Cardiovascular Electrophysiology 14, no. 10 (2003): 1120–21. http://dx.doi.org/10.1046/j.1540-8167.2003.03339.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

20

Gasser, Susan M., James R. Lupski, Yann Le Cam, and Olivier Menzel. "Rare day to highlight rare diseases." Nature 481, no. 7381 (2012): 265. http://dx.doi.org/10.1038/481265a.

Full text

APA, Harvard, Vancouver, ISO, and other styles

21

Attiyeh, Edward F., and John M. Maris. "Identifying Rare Events in Rare Diseases." Clinical Cancer Research 21, no. 8 (2014): 1782–85. http://dx.doi.org/10.1158/1078-0432.ccr-14-2314.

Full text

APA, Harvard, Vancouver, ISO, and other styles

22

Mascalzoni, Deborah, Bartha Maria Knoppers, Ségolène Aymé, et al. "Rare diseases and now rare data?" Nature Reviews Genetics 14, no. 6 (2013): 372. http://dx.doi.org/10.1038/nrg3494.

Full text

APA, Harvard, Vancouver, ISO, and other styles

23

The Lancet Diabetes & Endocrinology. "Rare diseases: individually rare, collectively common." Lancet Diabetes & Endocrinology 11, no. 3 (2023): 139. http://dx.doi.org/10.1016/s2213-8587(23)00042-6.

Full text

APA, Harvard, Vancouver, ISO, and other styles

24

Mukherjee, Kusumika. "Care for Rare: Spotlight on Rare Diseases." Trends in Pharmacological Sciences 40, no. 4 (2019): 227–28. http://dx.doi.org/10.1016/j.tips.2019.02.008.

Full text

APA, Harvard, Vancouver, ISO, and other styles

25

Kastelic, Uros, Anoop C. Parameswaran, and Benjamin Y. C. Cheong. "A Rare Combination of Two Rare Diseases." Journal of the American College of Cardiology 58, no. 20 (2011): e37. http://dx.doi.org/10.1016/j.jacc.2011.03.075.

Full text

APA, Harvard, Vancouver, ISO, and other styles

26

Bax, Bridget E. "Biomarkers in Rare Diseases." International Journal of Molecular Sciences 22, no. 2 (2021): 673. http://dx.doi.org/10.3390/ijms22020673.

Full text

APA, Harvard, Vancouver, ISO, and other styles

27

NISHIGAMI, Kazuhiro. "Rare abdominal vascular diseases." Choonpa Igaku 46, no. 6 (2019): 531–34. http://dx.doi.org/10.3179/jjmu.jjmu.r.126.

Full text

APA, Harvard, Vancouver, ISO, and other styles

28

Pfliegler, György, Erzsébet Kovács, György Kovács, Krisztián Urbán, Valéria Nagy, and Boglárka Brúgós. "Adult-onset rare diseases." Orvosi Hetilap 155, no. 9 (2014): 334–40. http://dx.doi.org/10.1556/oh.2014.29857.

Full text

Abstract:

The present paper is focusing on rare diseases manifesting in late childhood or adulthood. A part of these syndromes are not of genetic origin, such as relatively or absolutely rare infections, autoimmune diseases, tumours, or diseases due to rare environmental toxic agents. In addition, even a large proportion of genetic disorders may develop in adulthood or may have adult forms as well, affecting are almost each medical specialization. Examples are storage disorders (e.g. adult form of Tay-Sachs disease, Gaucher-disease), enzyme deficiencies (e.g. ornithin-transcarbamylase deficiency of the

APA, Harvard, Vancouver, ISO, and other styles

29

Shotelersuk, V. "NGS for rare diseases." Clinica Chimica Acta 530 (May 2022): S459. http://dx.doi.org/10.1016/j.cca.2022.04.780.

Full text

APA, Harvard, Vancouver, ISO, and other styles

30

The Lancet Neurology. "Rare diseases: maintaining momentum." Lancet Neurology 21, no. 3 (2022): 203. http://dx.doi.org/10.1016/s1474-4422(22)00046-1.

Full text

APA, Harvard, Vancouver, ISO, and other styles

31

Walshe, J. M. "Management of rare diseases." QJM: An International Journal of Medicine 99, no. 2 (2006): 123–24. http://dx.doi.org/10.1093/qjmed/hcl006.

Full text

APA, Harvard, Vancouver, ISO, and other styles

32

Salmaso, S. "Rare diseases deserve attention." Eurosurveillance 4, no. 1 (1999): 1. http://dx.doi.org/10.2807/esm.04.01.00049-en.

Full text

Abstract:

In August, Eurosurveillance published reports of two outbreaks of trichinellosis detected in 1998 in France and Italy and linked with horse meat imported from Yugoslavia. This issue, otherwise dedicated to botulism, includes a report of a third one. Repor

APA, Harvard, Vancouver, ISO, and other styles

33

The Lancet. "Hope for rare diseases." Lancet 404, no. 10464 (2024): 1701. http://dx.doi.org/10.1016/s0140-6736(24)02414-0.

Full text

APA, Harvard, Vancouver, ISO, and other styles

34

Mavrogenis, Andreas F., Vasilios G. Igoumenou, Thekla Antoniadou, et al. "Rare diseases of bone." EFORT Open Reviews 3, no. 6 (2018): 381–90. http://dx.doi.org/10.1302/2058-5241.3.170047.

Full text

Abstract:

Non-Langerhans cell histiocytosis (N-LCH) summarizes a group of rare diseases with different clinical presentations, pathogenesis and morphology. These include primary cutaneous N-LCH, cutaneous N-LCH with systemic involvement, and primary extracutaneous systemic forms with occasional cutaneous involvement. The juvenile (JXG) and non-juvenile xanthogranuloma (N-JXG) family of histiocytoses are N-LCH: the JXG family consisting of the JXG (cutaneous), xanthoma disseminatum (cutaneous and systemic) and Erdheim-Chester disease (ECD; systemic); and the N-JXG family consisting of the solitary reticu

APA, Harvard, Vancouver, ISO, and other styles

35

Ferlini, A., C. Scotton, and G. Novelli. "Biomarkers in Rare Diseases." Public Health Genomics 16, no. 6 (2013): 313–21. http://dx.doi.org/10.1159/000355938.

Full text

APA, Harvard, Vancouver, ISO, and other styles

36

Sanan, Akshay, and David M. Cognetti. "Rare Parotid Gland Diseases." Otolaryngologic Clinics of North America 49, no. 2 (2016): 489–500. http://dx.doi.org/10.1016/j.otc.2015.10.009.

Full text

APA, Harvard, Vancouver, ISO, and other styles

37

Remuzzi, Giuseppe, and Silvio Garattini. "Rare diseases: what's next?" Lancet 371, no. 9629 (2008): 1978–79. http://dx.doi.org/10.1016/s0140-6736(08)60847-8.

Full text

APA, Harvard, Vancouver, ISO, and other styles

38

Bordini, Brett J., and Robert M. Kliegman. "Undiagnosed and Rare Diseases." Clinics in Perinatology 47, no. 1 (2020): i. http://dx.doi.org/10.1016/s0095-5108(19)30149-6.

Full text

APA, Harvard, Vancouver, ISO, and other styles

39

BORMAN, STU. "RARE AND NEGLECTED DISEASES." Chemical & Engineering News 88, no. 17 (2010): 36–38. http://dx.doi.org/10.1021/cen-v088n017.p036.

Full text

APA, Harvard, Vancouver, ISO, and other styles

40

Kliegman, Robert M., and Brett J. Bordini. "Undiagnosed and Rare Diseases." Pediatric Clinics of North America 64, no. 1 (2017): xvii—xviii. http://dx.doi.org/10.1016/j.pcl.2016.10.002.

Full text

APA, Harvard, Vancouver, ISO, and other styles

41

Spencer, D. "Rare single system diseases." Paediatric Respiratory Reviews 2, no. 1 (2001): 63–69. http://dx.doi.org/10.1053/prrv.2000.0103.

Full text

APA, Harvard, Vancouver, ISO, and other styles

42

Levine, A. J., and D. J. Williams. "Rare diseases do occur." Emergency Medicine Journal 8, no. 4 (1991): 296. http://dx.doi.org/10.1136/emj.8.4.296.

Full text

APA, Harvard, Vancouver, ISO, and other styles

43

Dalal, Kavitha S., and Mary Barna Bridgeman. "Drugs for rare diseases." Nursing 50, no. 3 (2020): 70. http://dx.doi.org/10.1097/01.nurse.0000654068.44660.17.

Full text

APA, Harvard, Vancouver, ISO, and other styles

44

Groft, Stephen C. "Rare Diseases: Identifying Needs." American Pharmacy 30, no. 4 (1990): 33–40. http://dx.doi.org/10.1016/s0160-3450(15)31508-7.

Full text

APA, Harvard, Vancouver, ISO, and other styles

45

The Lancet Diabetes & Endocrinology. "Spotlight on rare diseases." Lancet Diabetes & Endocrinology 7, no. 2 (2019): 75. http://dx.doi.org/10.1016/s2213-8587(19)30006-3.

Full text

APA, Harvard, Vancouver, ISO, and other styles

46

Witkowska, Anna, Marta Wiszniewska, and Jolanta Walusiak-Skorupa. "Rare occupational respiratory diseases." Medycyna Pracy 71, no. 1 (2020): 89–104. http://dx.doi.org/10.13075/mp.5893.00895.

Full text

APA, Harvard, Vancouver, ISO, and other styles

47

Le Cam, Yann. "EURORDIS-Rare Diseases Europe." Impact 2017, no. 4 (2017): 12–13. http://dx.doi.org/10.21820/23987073.2017.4.12.

Full text

APA, Harvard, Vancouver, ISO, and other styles

48

Fink, John, and Matthew Lorincz. "Rare Treatable Neurologic Diseases." Seminars in Neurology 32, no. 05 (2013): 489–90. http://dx.doi.org/10.1055/s-0033-1334480.

Full text

APA, Harvard, Vancouver, ISO, and other styles

49

Braconi, Daniela, and Annalisa Santucci. "Models of rare diseases." Drug Discovery Today: Disease Models 31 (2020): 1–2. http://dx.doi.org/10.1016/j.ddmod.2020.02.001.

Full text

APA, Harvard, Vancouver, ISO, and other styles

50

Wynn, Paul. "Fiercely Fighting Rare Diseases." Brain & Life 19, no. 2 (2023): 7–8. http://dx.doi.org/10.1097/01.nnn.0000927648.53289.64.

Full text

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!