I agree that this site is using cookies. You can find further informations here.
X
Kamsteeg, Erik-Jan
326  results:
Search for persons X
?
1

The FGF14 gene is a milestone in ataxia genetics:

van de Warrenburg, Bart P. ; Kamsteeg, Erik-Jan
eBioMedicine.  100 (2024)  - p. 104994 , 2024
Link: https://doi.org/10.1016/..
 
?
2

The expanding clinical and genetic spectrum of DYNC1H1-rela..:

Möller, Birk ; Becker, Lena-Luise ; Saffari, Afshin...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
?
3

Brody Disease, an Early-Onset Myopathy With Delayed Relaxat..:

Verhoeven, Jamie I. ; Kramer, Jasper ; Seeger, Juergen...
Neurology.  102 (2024)  5 - p. , 2024
Link: https://doi.org/10.1212/..
 
?
4

Genome sequencing as a generic diagnostic strategy for rare..:

Schobers, Gaby ; Derks, Ronny ; den Ouden, Amber...
Genome Medicine.  16 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
?
5

Systematic analysis of paralogous regions in 41,755 exomes ..:

Steyaert, Wouter ; Haer-Wigman, Lonneke ; Pfundt, Rolph...
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
?
6

SELENON-Related Myopathy Across the Life Span, a Cross-Sect..:

Bouman, Karlijn ; Groothuis, Jan T. ; Doorduin, Jonne...
Journal of Neuromuscular Diseases.  10 (2023)  6 - p. 1055-1074 , 2023
Link: https://doi.org/10.3233/..
 
?
7

Genetic characterization of primary lateral sclerosis:

de Boer, Eva M. J. ; de Vries, Balint S. ; Pennings, Maartje...
Journal of Neurology.  270 (2023)  8 - p. 3970-3980 , 2023
Link: https://doi.org/10.1007/..
 
?
8

Mobile element insertions in rare diseases: a comparative b..:

Wijngaard, Robin ; Demidov, German ; O'Gorman, Luke...
European Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
?
9

A Novel Variant in TPM3 Causing Muscle Weakness and Concomi..:

Robaszkiewicz, Katarzyna ; Siatkowska, Małgorzata ; Wadman, Renske I....
International Journal of Molecular Sciences.  24 (2023)  22 - p. 16147 , 2023
Link: https://doi.org/10.3390/..
 
?
10

SMDT1 variants impair EMRE-mediated mitochondrial calcium u..:

Bulthuis, Elianne P. ; Adjobo-Hermans, Merel J.W. ; de Potter, Bastiaan...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1869 (2023)  8 - p. 166808 , 2023
Link: https://doi.org/10.1016/..
 
?
11

Delineation of a KDM2B-related neurodevelopmental disorder ..:

van Jaarsveld, Richard H. ; Reilly, Jack ; Cornips, Marie-Claire...
Genetics in Medicine.  25 (2023)  1 - p. 49-62 , 2023
Link: https://doi.org/10.1016/..
 
?
12

An E280K Missense Variant in KCND3/Kv4.3—Case Report and Fu..:

Ågren, Richard ; Geerdink, Niels ; Brunner, Han G....
International Journal of Molecular Sciences.  24 (2023)  13 - p. 10924 , 2023
Link: https://doi.org/10.3390/..
 
?
13

Muscle Ultrasound Abnormalities in Individuals with RYR1-Re..:

van den Bersselaar, Luuk R. ; van Alfen, Nens ; Kruijt, Nick...
Journal of Neuromuscular Diseases.  10 (2023)  4 - p. 541-554 , 2023
Link: https://doi.org/10.3233/..
 
?
14

Respiratory features of centronuclear myopathy in the Nethe..:

Bouma, Sietse ; Cobben, Nicolle ; Bouman, Karlijn...
Neuromuscular Disorders.  33 (2023)  7 - p. 580-588 , 2023
Link: https://doi.org/10.1016/..
 
?
15

Loss-of-Function Variants in DRD1 in Infantile Parkinsonism..:

Reid, Kimberley M. ; Steel, Dora ; Nair, Sanjana...
Cells.  12 (2023)  7 - p. 1046 , 2023
Link: https://doi.org/10.3390/..
 
1-15