E-LIB Suche - Ergebnisse für: Scheffer, Hans

1

Rapid exome sequencing as a first-tier test in neonates wit..:

Olde Keizer, Richelle A. C. M. ; Marouane, Abderrahim ; Kerstjens-Frederikse, Wilhelmina S....
European Journal of Pediatrics. 182 (2023) 6 - p. 2683-2692 , 2023

Link: https://doi.org/10.1007/..

2

Recommendations for whole genome sequencing in diagnostics ..:

Souche, Erika ; Beltran, Sergi ; Brosens, Erwin...
European Journal of Human Genetics. 30 (2022) 9 - p. 1017-1021 , 2022

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

3

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/..

4

Genotype-Guided Thiopurine Dosing Does not Lead to Addition..:

Coenen, Marieke J H ; Kievit, Wietske ; van der Wilt, Gert Jan...
Journal of Crohn's and Colitis. 13 (2019) 7 - p. 838-845 , 2019

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

5

Natural Exon Skipping Sets the Stage for Exon Skipping as T..:

Bremer, Jeroen ; van der Heijden, Elisabeth H. ; Eichhorn, Daryll S....
Molecular Therapy - Nucleic Acids. 18 (2019) - p. 465-475 , 2019

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

6

Regarding the rights and duties of Clinical Laboratory Gene..:

Liehr, Thomas ; Carreira, Isabel M. ; Balogh, Zsofia...
European Journal of Human Genetics. 27 (2019) 8 - p. 1168-1174 , 2019

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

7

European registration process for Clinical Laboratory Genet..:

on behalf of the Clinical Laboratory Geneticists Professional Branch Board, European Board of Medical Genetics, Vienna, Austria ; Liehr, Thomas ; Carreira, Isabel M...
European Journal of Human Genetics. 25 (2017) 5 - p. 515-519 , 2017

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

8

Diagnostic exome sequencing in 266 Dutch patients with visu..:

Haer-Wigman, Lonneke ; van Zelst-Stams, Wendy AG ; Pfundt, Rolph...
European Journal of Human Genetics. 25 (2017) 5 - p. 591-599 , 2017

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

9

Erratum: Clinical exome sequencing for cerebellar ataxia an..:

van de Warrenburg, Bart P ; Schouten, Meyke I ; de Bot, Susanne T...
European Journal of Human Genetics. 25 (2017) 3 - p. 393-0 , 2017

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

10

Detection of clinically relevant copy-number variants by ex..:

Pfundt, Rolph ; del Rosario, Marisol ; Vissers, Lisenka E.L.M....
Genetics in Medicine. 19 (2017) 6 - p. 667-675 , 2017

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

11

More Dose-dependent Side Effects with Mercaptopurine over A..:

Broekman, Mark M. T. J. ; Coenen, Marieke J. H. ; van Marrewijk, Corine J....
Inflammatory Bowel Diseases. 23 (2017) 10 - p. 1873-1881 , 2017

Link: https://doi.org/10.1097/..

12

Erratum: Guidelines for diagnostic next-generation sequenci..:

Matthijs, Gert ; Souche, Erika ; Alders, Mariëlle...
European Journal of Human Genetics. 24 (2016) 10 - p. 1515-1515 , 2016

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

13

Clinical exome sequencing for cerebellar ataxia and spastic..:

van de Warrenburg, Bart P ; Schouten, Meyke I ; de Bot, Susanne T...
European Journal of Human Genetics. 24 (2016) 10 - p. 1460-1466 , 2016

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

14

Early Assessment of Thiopurine Metabolites Identifies Patie..:

Wong, Dennis R. ; Coenen, Marieke J.H. ; Vermeulen, Sita H....
Journal of Crohn's and Colitis. 11 (2016) 2 - p. 175-184 , 2016

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

15

The diagnostic yield of whole-exome sequencing targeting a ..:

Zazo Seco, Celia ; Wesdorp, Mieke ; Feenstra, Ilse...
European Journal of Human Genetics. 25 (2016) 3 - p. 308-314 , 2016

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