E-LIB Suche - Ergebnisse für: den Dunnen, Johan T.

1

Hematologically important mutations: Leukocyte adhesion def..:

Roos, Dirk ; van Leeuwen, Karin ; Madkaikar, Manisha...
Blood Cells, Molecules, and Diseases. 99 (2023) - p. 102726 , 2023

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

2

Human Mutation special issue on "Variant Effect Prediction":

Laner, Andreas ; Maver, Ales ; den Dunnen, Johan T.
Human Mutation. 43 (2022) 8 - p. 973-975 , 2022

Link: https://doi.org/10.1002/..

3

Front Cover, Volume 43, Issue 8:

Laner, Andreas ; Maver, Ales ; den Dunnen, Johan T.
Human Mutation. 43 (2022) 8 - p. , 2022

Link: https://doi.org/10.1002/..

4

A Case Series of Familial ARID1B Variants Illustrating Vari..:

van der Sluijs, Pleuntje J. ; Alders, Mariëlle ; Dingemans, Alexander J. M....
Genes. 12 (2021) 8 - p. 1275 , 2021

Link: https://doi.org/10.3390/..

5

General considerations:

, In: Clinical DNA Variant Interpretation,

Fokkema, Ivo F.A.C. ; den Dunnen, Johan T. - p. 9-27 , 2021

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

6

NR2F1database: 112 variants and 84 patients support refinin..:

Billiet, Benjamin ; Amati‐Bonneau, Patrizia ; Desquiret‐Dumas, Valérie...
Human Mutation. 43 (2021) 2 - p. 128-142 , 2021

Link: https://doi.org/10.1002/..

7

The Role of the European Society of Human Genetics in Deliv..:

Tobias, Edward S. ; Avram, Elena ; Calapod, Patricia...
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

8

The LOVD3 platform: efficient genome-wide sharing of geneti..:

Fokkema, Ivo F.A.C. ; Kroon, Mark ; López Hernández, Julia A....
European Journal of Human Genetics. 29 (2021) 12 - p. 1796-1803 , 2021

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

9

Integrating Whole-Genome Sequencing in Clinical Genetics: A..:

Gonçalves, Ana ; Fortuna, Ana ; Ariyurek, Yavuz...
International Journal of Molecular Sciences. 23 (2021) 1 - p. 59 , 2021

Link: https://doi.org/10.3390/..

10

Newborn screening of duchenne muscular dystrophy specifical..:

Beckers, Pablo ; Caberg, Jean-Hubert ; Dideberg, Vinciane...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

11

Data sharing and gene variant databases:

, In: Clinical DNA Variant Interpretation,

den Dunnen, Johan T. ; Fokkema, Ivo F.A.C. - p. 221-236 , 2021

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

12

Mutalyzer 2: next generation HGVS nomenclature checker:

Lefter, Mihai ; Vis, Jonathan K ; Vermaat, Martijn...
Bioinformatics. 37 (2021) 18 - p. 2811-2817 , 2021

Link: https://doi.org/10.1093/..

13

Contributors:

, In: Clinical DNA Variant Interpretation,

Alves, Ana Catarina ; Austin-Tse, Christina Anne ; Bourbon, Mafalda... - p. xvii-xxi , 2021

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

14

New locus underlying auriculocondylar syndrome (ARCND): 430..:

Romanelli Tavares, Vanessa Luiza ; Guimarães-Ramos, Sofia Ligia ; Zhou, Yan...
Journal of Medical Genetics. 59 (2021) 9 - p. 895-905 , 2021

Link: https://doi.org/10.1136/..

15

Stepwise ABC system for classification of any type of genet..:

Houge, Gunnar ; Laner, Andreas ; Cirak, Sebahattin...
European Journal of Human Genetics. 30 (2021) 2 - p. 150-159 , 2021

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