Suchergebnisse - "Rare disease"

PubPharm (16)

1

Historical overview of development in methods to estimate burden of disease due to congenital disorders

enthalten in: Journal of community genetics | 2018

von Modell, B. | Darlison, M. | Lawn, J.

2

Activin-A enhances mTOR signaling to promote aberrant chondrogenesis in fibrodysplasia ossificans progressiva.(RESEARCH ARTICLE)

enthalten in: The journal of clinical investigation | 2017

von Hino, K. | Horigome, K. | Nishio, M. | +9

3

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing

enthalten in: Clinical genetics | 2017

von Balci, T. | Hartley, T. | Xi, Y. | +23

4

Developing gene and cell therapies for rare diseases: an opportunity for synergy between academia and industry.(Spinraza And Advanced Therapies: A Stakeholder Special)

enthalten in: Gene therapy | 2017

von Mavilio, F.

5

The importance of international collaboration for rare diseases research: a European perspective.(Spinraza And Advanced Therapies: A Stakeholder Special)

enthalten in: Gene therapy | 2017

von Julkowska, D. | Austin, C. | Cutillo, C. | +10

6

Building the patient community.(Spinraza And Advanced Therapies: A Stakeholder Special)

enthalten in: Gene therapy | 2017

von Raffai, F. | Timmis, O.

7

Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

enthalten in: Clinical genetics | 2016

von Sawyer, S. | Hartley, T. | Dyment, D. | +42

8

Fixing fate; Rare diseases

enthalten in: The economist | 2016

9

Sapientia: accelerating rare disease diagnosis and treatment

enthalten in: Personalized medicine | 2016

von Furness, M.

10

Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery

enthalten in: Human mutation | 2015

von Mungall, C. | Washington, N. | Nguyen‐Xuan, J. | +9