E-LIB Suche - Ergebnisse für: van Koningsbruggen, Silvana

1

Hematopoietic stem cell transplantation in a patient with p..:

Verhoeven, Dorit ; Schonenberg-Meinema, Dieneke ; Ebstein, Frédéric...
Journal of Allergy and Clinical Immunology. 149 (2022) 3 - p. 1120-1127.e8 , 2022

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

2

Elucidation of the Genetic Cause in Dutch Limb Girdle Muscu..:

ten Dam, L. ; de Visser, M. ; Ginjaar, Ieke B....
Journal of Neuromuscular Diseases. 8 (2021) 2 - p. 261-272 , 2021

Link: https://doi.org/10.3233/..

3

Screening for inborn errors of metabolism in psychotic pati..:

van de Burgt, Nikita ; van Koningsbruggen, Silvana ; Behrens, Leonie...
Journal of Psychiatric Research. 138 (2021) - p. 125-129 , 2021

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

4

Successful Treatment of Hereditary Folate Malabsorption Wit..:

Lubout, Charlotte M.A. ; Goorden, Susanna M.I. ; van den Hurk, Karin...
Pediatric Neurology. 102 (2020) - p. 62-66 , 2020

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

5

Biallelic loss-of-function P4HTM gene variants cause hypoto..:

Rahikkala, Elisa ; Myllykoski, Matti ; Hinttala, Reetta...
Genetics in Medicine. 21 (2019) 10 - p. 2355-2363 , 2019

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

6

An inactivating mutation in the histone deacetylase SIRT6 c..:

Ferrer, Christina M. ; Alders, Marielle ; Postma, Alex V....
Genes & Development. 32 (2018) 5-6 - p. 373-388 , 2018

Link: https://doi.org/10.1101/..

7

Bloom syndrome does not always present with sun-sensitive f..:

Bouman, Arjan ; van Koningsbruggen, Silvana ; Karakullukcu, M. Bariş..
European Journal of Medical Genetics. 61 (2018) 2 - p. 94-97 , 2018

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

8

A SEPSECS mutation in a 23‐year‐old woman with microcephaly..:

van Dijk, Tessa ; Vermeij, Jan‐Dirk ; van Koningsbruggen, Silvana...
Journal of Inherited Metabolic Disease. 41 (2018) 5 - p. 897-898 , 2018

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

9

Complete and partial XYLT1 deletion in a patient with neona..:

van Koningsbruggen, Silvana ; Knoester, Hennie ; Bakx, Roel...
American Journal of Medical Genetics Part A. 170 (2015) 2 - p. 510-514 , 2015

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

10

Facioscapulohumeral Muscular Dystrophy Region Gene 1 Is a D..:

Sun, Chia-Yun Jessica ; van Koningsbruggen, Silvana ; Long, Steven W....
Journal of Molecular Biology. 411 (2011) 2 - p. 397-416 , 2011

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

11

The multifunctional nucleolus:

Boisvert, François-Michel ; van Koningsbruggen, Silvana ; Navascués, Joaquín.
Nature Reviews Molecular Cell Biology. 8 (2007) 7 - p. 574-585 , 2007

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

12

FRG1P-mediated aggregation of proteins involved in pre-mRNA..:

van Koningsbruggen, Silvana ; Straasheijm, Kirsten R. ; Sterrenburg, Ellen...
Chromosoma. 116 (2006) 1 - p. 53-64 , 2006

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

13

Prevention of oculopharyngeal muscular dystrophy-associated..:

Verheesen, Peter ; de Kluijver, Anna ; van Koningsbruggen, Silvana...
Human Molecular Genetics. 15 (2005) 1 - p. 105-111 , 2005

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

14

Multiple transcripts generated by the DCAMKL gene are expre..:

Vreugdenhil, Erno ; Engels, Bart ; Middelburg, Rutger...
Molecular Brain Research. 94 (2001) 1-2 - p. 67-74 , 2001

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

15

Kainate-elicited seizures induce mRNA encoding a CaMK-relat..:

Vreugdenhil, Erno ; Datson, Nicole ; Engels, Bart...
Journal of Neurobiology. 39 (1999) 1 - p. 41-50 , 1999

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