E-LIB Suche - Ergebnisse für: Rath, Ana

1

Toward robust clinical genome interpretation: Developing a ..:

Roberts, Angharad M. ; DiStefano, Marina T. ; Riggs, Erin Rooney...
Genetics in Medicine. 26 (2024) 2 - p. 101029 , 2024

Link: https://doi.org/10.1016/..

2

Coding undiagnosed rare disease patients in health informat..:

Angin, Céline ; Mazzucato, Monica ; Weber, Stefanie...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

3

P570: Generating a framework for curating mechanism of dise..:

DiStefano, Marina ; Alkuraya, Fowzan ; Amberger, Joanna...
Genetics in Medicine Open. 2 (2024) - p. 101476 , 2024

Link: https://doi.org/10.1016/..

4

Les maladies rares aux urgences : « Orphanet Urgences »:

Giraudet, Janine-Sophie ; Bagou, Gilles ; Chauvin, Antony...
Anesthésie & Réanimation. 9 (2023) 2 - p. 122-132 , 2023

Link: https://doi.org/10.1016/..

5

P451: The Gene Curation Coalition works to resolve discrepa..:

DiStefano, Marina ; Amberger, Joanna ; Austin-Tse, Christina...
Genetics in Medicine Open. 1 (2023) 1 - p. 100498 , 2023

Link: https://doi.org/10.1016/..

6

Emergency management of patients with Glanzmann thrombasthe..:

Fiore, Mathieu ; Giraudet, Janine-Sophie ; Alessi, Marie-Christine...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

7

Together4RD position statement on collaboration between Eur..:

Hedley, Victoria ; Bolz-Johnson, Matt ; Hernando, Ines...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

8

ORPHAcodes use for the coding of rare diseases: comparison ..:

Mazzucato, Monica ; Pozza, Laura Visonà Dalla ; Facchin, Paola...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

9

Phenotypic similarity-based approach for variant prioritiza..:

Lagorce, David ; Lebreton, Emeline ; Matalonga, Leslie...
European Journal of Human Genetics. , 2023

Link: https://doi.org/10.1038/..

10

Solve-RD: systematic pan-European data sharing and collabor..:

Zurek, Birte ; Ellwanger, Kornelia ; Vissers, Lisenka E. L. M....
European Journal of Human Genetics. 29 (2021) 9 - p. 1325-1331 , 2021

Link: https://doi.org/10.1038/..

11

Launch of the gene curation coalition database:

DiStefano, Marina ; Goehringer, Scott ; Amberger, Joanna...
Molecular Genetics and Metabolism. 132 (2021) - p. S224-S225 , 2021

Link: https://doi.org/10.1016/..

12

Correction to: Solve-RD: systematic pan-European data shari..:

Zurek, Birte ; Ellwanger, Kornelia ; Vissers, Lisenka E. L. M....
European Journal of Human Genetics. 29 (2021) 9 - p. 1459-1461 , 2021

Link: https://doi.org/10.1038/..

13

Orphanet

, In: Digitale Gesundheit in Europa / Jens Baas (Hrsg.) ; mit einem Geleitwort von Jens Spahn ; mit Beiträgen von M. Augustin, J. Baas, T. Ballast, M. Baumann, J. Brehmer, A. Bucher, R. Busse, U. Bußhoff, D. Chytrek, G. Danner, J. Debatin, B. de Witte, S. Dramburg, C. Egan, R. Fritz, M. Goyen, A. Grimm, M. Härter, T.L. Hecke, D. Jaeger, S. Krolop, M. Krutzik, H. Lantzsch, H. Lehrach, M. Leyck Dieken, R. Linder, M. Lugan, G. Marx, P. Matricardi, D. Matusiewicz, A. Meusch, K. Neumann, L. Oschmann, C. Oswald, S. Ozegowski, D. Panteli, O. Pfaar, F.M.J. Pfister, A. Rath, C. Rodwell, A. Schellinger, M. Schlobohm, M. Schindel, M. Schössler, M. Schreiner, S. Schupfner, A. Seitz, S.C. Semler, M. Shamsrizi, V. Stehphani, A. Struchholz, N. Synowietz, R. Thiel, A. Treszl, G. van Aalst, J. Wager, J.A. Werner, S. Wirth, B. Zernikow

Kooperationsperspektiven innerhalb der EU und die Vorteile ...

Rath, Ana ; Rodwell, Charlotte. (2020) - p. 209-218

Exemplar: Zentrale:Magazin 03.h.8624

14

Reply to E. Vicente et al:

Rath, Ana ; Lambert, Deborah M. ; Olry, Annie..
European Journal of Human Genetics. 29 (2020) 6 - p. 1034-1035 , 2020

Link: https://doi.org/10.1038/..

15

Correction: Phenotate: crowdsourcing phenotype annotations ..:

Chang, Willie H. ; Mashouri, Pouria ; Lozano, Alexander X....
Genetics in Medicine. 22 (2020) 8 - p. 1427 , 2020

Link: https://doi.org/10.1038/..