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Rosalina M.L. van Spaendonk

GGD Amsterdam(NL)

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23

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1.0K

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13

h-index

15

i10-index

Rosalina M.L. van Spaendonk is an academic researcher from GGD Amsterdam. The author has contributed to research in topics: RNA regulation and disease & RNA modifications and cancer & RNA and protein synthesis mechanisms. The author has an h-index of 13, co-authored 20 publications.

Research Topics

RNA regulation and disease RNA modifications and cancer RNA and protein synthesis mechanisms Genomics and Rare Diseases RNA Research and Splicing

Papers by this author

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>

2020 · The Journal of Clinical Endocrinology & Metabolism · 43 citations

https://doi.org/10.1210/clinem/dgaa700

Félixe Pelletier Stefanie Perrier Ferdy Kurniawan Cayami Amytice Mirchi

Altered<i>PLP1</i>splicing causes hypomyelination of early myelinating structures

2015 · Annals of Clinical and Translational Neurology · 42 citations

https://doi.org/10.1002/acn3.203

Sietske H. Kevelam Jennifer R. Taube Rosalina M.L. van Spaendonk Enrico Bertini

Research topics

topics

RNA regulation and disease

RNA modifications and cancer

RNA and protein synthesis mechanisms

Genomics and Rare Diseases

RNA Research and Splicing

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