E-LIB Suche - Ergebnisse für: van Spaendonk, Rosalina

1

The Right Temporal Variant of Frontotemporal Dementia Is No..:

Ulugut Erkoyun, Hulya ; van der Lee, Sven J. ; Nijmeijer, Bas...
Journal of Alzheimer's Disease. 79 (2021) 3 - p. 1195-1201 , 2021

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

2

P4‐038: IS SORL1 AN AUTOSOMAL DOMINANT ALZHEIMER GENE?:

Van der Lee, Sven J. ; Minderhoud, Crista ; van Spaendonk, Rosalina...
Alzheimer's & Dementia. 14 (2018) 7S_Part_27 - p. , 2018

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

3

Diffuse hypomyelination is not obligate for POLR3-related d..:

La Piana, Roberta ; Cayami, Ferdy K. ; Tran, Luan T....
Neurology. 86 (2016) 17 - p. 1622-1626 , 2016

Link: https://doi.org/10.1212/..

4

Melanocortin‐4 Receptor Gene Mutations in a Dutch Cohort of..:

van den Berg, Linda ; van Beekum, Olivier ; Heutink, Peter...
Obesity. 19 (2011) 3 - p. 604-611 , 2011

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

5

Novel inactivating mutations of FANCC in Brazilian patients..:

Yates, Jane ; Keeble, Winifred ; Pals, Gerard...
Human Mutation. 27 (2006) 2 - p. 214-214 , 2006

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

6

High-resolution mapping of molecular events associated with..:

Worsham, Maria J. ; Pals, Gerard ; Schouten, Jan P....
Breast Cancer Research and Treatment. 96 (2005) 2 - p. 177-186 , 2005

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

7

Megalencephalic leukoencephalopathy with subcortical cysts:..:

Passchier, Emma M. J. ; Bisseling, Quinty ; Helman, Guy...
Frontiers in Genetics. 15 (2024) - p. , 2024

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

8

Data driven criteria for genetic testing result in an effic..:

Lee, Sven J ; Hulsman, Marc ; van Spaendonk, Rosalina M.L....
Alzheimer's & Dementia. 19 (2023) S12 - p. , 2023

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

9

Case report: XMEN disease: a patient with recurrent Hodgkin..:

de Groot, Pieter F. ; Kwakernaak, Arjan J. ; van Leeuwen, Ester M. M....
Frontiers in Medicine. 10 (2023) - p. , 2023

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

10

Congenital amegakaryocytic thrombocytopenia presenting with..:

Vanholder, Inez M ; Ecury‐Goossen, Ginette M ; Admiraal, Jop...
Journal of Paediatrics and Child Health. 58 (2022) 12 - p. 2319-2321 , 2022

Link: https://doi.org/10.1111/..

11

Endocrine and Growth Abnormalities in 4H Leukodystrophy Cau..:

Pelletier, Félixe ; Perrier, Stefanie ; Cayami, Ferdy K...
The Journal of Clinical Endocrinology & Metabolism. 106 (2020) 2 - p. e660-e674 , 2020

Link: https://doi.org/10.1210/..

12

POLR3A variants with striatal involvement and extrapyramida..:

Harting, Inga ; Al-Saady, Murtadha ; Krägeloh-Mann, Ingeborg...
neurogenetics. 21 (2020) 2 - p. 121-133 , 2020

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

13

Interferon‐α and the calcifying microangiopathy in Aicardi–..:

Klok, Melanie D. ; Bakels, Hannah S. ; Postma, Nienke L....
Annals of Clinical and Translational Neurology. 2 (2015) 7 - p. 774-779 , 2015

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

14

Large exonic deletions in POLRB gene cause POLR3-related le..:

Gutierrez, Mariana ; Thiffault, Isabelle ; Guerrero, Kether...
Orphanet Journal of Rare Diseases. 10 (2015) 1 - p. , 2015

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

15

AlteredPLP1splicing causes hypomyelination of early myelina..:

Kevelam, Sietske H. ; Taube, Jennifer R. ; van Spaendonk, Rosalina M. L....
Annals of Clinical and Translational Neurology. 2 (2015) 6 - p. 648-661 , 2015

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