檢索結果 - Snetselaar, Reinier
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The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent 由 Vijzelaar, Raymon, Snetselaar, Reinier, Clausen, Martijn, Mason, Amanda G., Rinsma, Marrit, Zegers, Marinka, Molleman, Naomi, Boschloo, Renske, Yilmaz, Rizkat, Kuilboer, Romy, Lens, Sylvia, Sulchan, Syamiroh, Schouten, Jan
出版 2019Text -
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Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy 由 Strunk, Annuska, Abbes, Andre, Stuitje, Antoine R., Hettinga, Chris, Sepers, Eline M., Snetselaar, Reinier, Schouten, Jan, Asselman, Fay-Lynn, Cuppen, Inge, Lemmink, Henny, van der Pol, W. Ludo, Engel, Henk
出版 2019Text -
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Short telomere length in IPF lung associates with fibrotic lesions and predicts survival 由 Snetselaar, Reinier, van Batenburg, Aernoud A., van Oosterhout, Matthijs F. M., Kazemier, Karin M., Roothaan, Suzan M., Peeters, Ton, van der Vis, Joanne J., Goldschmeding, Roel, Grutters, Jan C., van Moorsel, Coline H. M.
出版 2017Text -
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SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis 由 Bos, Jeroen W., Groen, Ewout J.N., Wadman, Renske I., Curial, Chantall A.D., Molleman, Naomi N., Zegers, Marinka, van Vught, Paul W.J., Snetselaar, Reinier, Vijzelaar, Raymon, van der Pol, W. Ludo, van den Berg, Leonard H.
出版 2021Text