Volume 12, Issue 2

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April 2021

Special Issue on Rare Diseases

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9 articles in this issue

Rare diseases: past achievements and future prospects
Birute Tumiene
Ulf Kristoffersson
Helena Kääriäinen
Editorial 04 May 2021 Pages: 205 - 206
Part of 2 collections:

Rare Diseases

Rare Diseases
Shaping national plans and strategies for rare diseases in Europe: past, present, and future
Victoria Hedley
Valentina Bottarelli
Domenica Taruscio
Original Article Open access 05 May 2021 Pages: 207 - 216
Part of 3 collections:

Rare Diseases

SDG10 Highlights: Reduced inequalities in the Journal of Community Genetics

Rare Diseases
European Reference Networks: challenges and opportunities
Birute Tumiene
Holm Graessner
Nicoline Hoogerbrugge
Original Arrticle 17 March 2021 Pages: 217 - 229
Part of 2 collections:

Rare Diseases

Rare Diseases
Rare disease care pathways in the EU: from odysseys and labyrinths towards highways
Birute Tumiene
Holm Graessner
Original Article 18 March 2021 Pages: 231 - 239
Part of 3 collections:

Rare Diseases

SDG3 Highlights: Good Health and Wellbeing in the Journal of Community Genetics

Rare Diseases
Our greatest untapped resource: our patients
Matt Bolz-Johnson
Tom Kenny
Ines Hernando
Original Article 21 April 2021 Pages: 241 - 246
Part of 2 collections:

Rare Diseases

Rare Diseases
Improving diagnostics of rare genetic diseases with NGS approaches
Mateja Vinkšel
Karin Writzl
Borut Peterlin
Original Article Open access 15 January 2021 Pages: 247 - 256
Part of 2 collections:

Rare Diseases

Rare Diseases
Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide
Martina C. Cornel
Tessel Rigter
Lidewij Henneman
Original Article Open access 19 October 2020 Pages: 257 - 265
Part of 3 collections:

Rare Diseases

SDG3 Highlights: Good Health and Wellbeing in the Journal of Community Genetics

Rare Diseases
Curative gene therapies for rare diseases
Rocio Maldonado
Sami Jalil
Kirmo Wartiovaara
Original Article Open access 15 August 2020 Pages: 267 - 276
Part of 2 collections:

Rare Diseases

Rare Diseases
Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands
T. Vrijenhoek
N. Tonisson
T. Rigter
Original Article Open access 11 March 2021 Pages: 277 - 290
Part of 2 collections:

Rare Diseases

Rare Diseases

Volume 12, Issue 2

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