E-LIB Suche - Ergebnisse für: Van Belzen, Martine

1

Repeat length variations in ATXN1 and AR modify disease exp..:

Gardiner, Sarah L. ; Harder, Aster V.E. ; Campman, Yvonne J.M....
Neurobiology of Aging. 73 (2019) - p. 230.e9-230.e17 , 2019

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

2

Two novel cases expanding the phenotype of SETD2‐related ov..:

van Rij, Maartje C. ; Hollink, Iris H. I. M. ; Terhal, Paulien Anna...
American Journal of Medical Genetics Part A. 176 (2018) 5 - p. 1212-1215 , 2018

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

3

Benign and malignant tumors in Rubinstein–Taybi syndrome:

Boot, Max V. ; van Belzen, Martine J. ; Overbeek, Lucy I....
American Journal of Medical Genetics Part A. 176 (2018) 3 - p. 597-608 , 2018

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

4

Huntingtin gene repeat size variations affect risk of lifet..:

Gardiner, Sarah L. ; van Belzen, Martine J. ; Boogaard, Merel W....
Translational Psychiatry. 7 (2017) 12 - p. , 2017

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

5

Predictive testing of minors for Huntington's disease: The ..:

Quarrell, Oliver W. ; Clarke, Angus J. ; Compton, Cecilia...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 177 (2017) 1 - p. 35-39 , 2017

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

6

Age of onset in Huntington's disease is influenced by CAG r..:

Stuitje, Geerte ; van Belzen, Martine J. ; Gardiner, Sarah L....
Brain. 140 (2017) 7 - p. e42-e42 , 2017

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

7

Phenotype and genotype in 52 patients with Rubinstein–Taybi..:

Fergelot, Patricia ; Van Belzen, Martine ; Van Gils, Julien...
American Journal of Medical Genetics Part A. 170 (2016) 12 - p. 3069-3082 , 2016

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

8

Reply: Late onset Huntington's disease with 29 CAG repeat e..:

Oosterloo, Mayke ; Van Belzen, Martine J. ; Bijlsma, Emilia K..
Journal of the Neurological Sciences. 368 (2016) - p. 343 , 2016

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

9

Analysis of mutations within the intron20 splice donor site..:

Dauwerse, Johannes G ; van Belzen, Martine ; van Haeringen, Arie...
European Journal of Human Genetics. 24 (2016) 11 - p. 1639-1643 , 2016

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

10

Mosaic CREBBP mutation causes overlapping clinical features..:

de Vries, Tamar I ; R Monroe, Glen ; van Belzen, Martine J...
European Journal of Human Genetics. 24 (2016) 9 - p. 1363-1366 , 2016

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

11

Erratum:

Wincent, Josephine ; Luthman, Aron ; van Belzen, Martine...
Molecular Genetics & Genomic Medicine. 4 (2016) 3 - p. 367-367 , 2016

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

12

CREBBP mutations in individuals without Rubinstein–Taybi sy..:

Menke, Leonie A. ; van Belzen, Martine J. ; Alders, Marielle...
American Journal of Medical Genetics Part A. 170 (2016) 10 - p. 2681-2693 , 2016

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

13

Archetypal NOTCH3 mutations frequent in public exome: impli..:

Rutten, Julie W. ; Dauwerse, Hans G. ; Gravesteijn, Gido...
Annals of Clinical and Translational Neurology. 3 (2016) 11 - p. 844-853 , 2016

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

14

A new mutation for Huntington disease following maternal tr..:

Semaka, Alicia ; Kay, Chris ; Belfroid, René D.M....
European Journal of Medical Genetics. 58 (2015) 1 - p. 28-30 , 2015

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

15

CREBBP and EP300 mutational spectrum and clinical presentat..:

Wincent, Josephine ; Luthman, Aron ; van Belzen, Martine...
Molecular Genetics & Genomic Medicine. 4 (2015) 1 - p. 39-45 , 2015

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