Kết quả tìm kiếm - Gheldof, Alexander
- Đang hiển thị 1 - 12 kết quả của 12
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Rare genetic variants potentially involved in ovarian hyperstimulation syndrome Bằng Stouffs, Katrien, Daelemans, Sari, Santos-Ribeiro, Samuel, Seneca, Sara, Gheldof, Alexander, Gürbüz, Ali Sami, De Vos, Michel, Tournaye, Herman, Blockeel, Christophe
Được phát hành 2018Text -
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Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis Bằng Sassi, Asma, Désir, Julie, Janssens, Véronique, Marangoni, Martina, Daneels, Dorien, Gheldof, Alexander, Bonduelle, Maryse, Van Dooren, Sonia, Costagliola, Sabine, Delbaere, Anne
Được phát hành 2020Text -
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Clinical implementation of gene panel testing for lysosomal storage diseases Bằng Gheldof, Alexander, Seneca, Sara, Stouffs, Katrien, Lissens, Willy, Jansen, Anna, Laeremans, Hilde, Verloo, Patrick, Schoonjans, An‐Sofie, Meuwissen, Marije, Barca, Diana, Martens, Geert, De Meirleir, Linda
Được phát hành 2018Text -
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Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing Bằng Franck, Silvie, Couvreu De Deckersberg, Edouard, Bubenik, Jodi L., Markouli, Christina, Barbé, Lise, Allemeersch, Joke, Hilven, Pierre, Duqué, Geoffrey, Swanson, Maurice S., Gheldof, Alexander, Spits, Claudia, Karen, D.
Được phát hành 2022Text -
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Expanding the clinical spectrum of biallelic ZNF335 variants Bằng Stouffs, Katrien, Stergachis, Andrew B., Vanderhasselt, Tim, Dica, Alice, Janssens, Sandra, Vandervore, Laura, Gheldof, Alexander, Bodamer, Olaf, Keymolen, Kathelijn, Seneca, Sara, Liebaers, Inge, Jayaraman, Divya, Hill, Haley E., Partlow, Jennifer N., Walsh, Christopher A., Jansen, Anna C.
Được phát hành 2018Text -
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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder Bằng Maia, Nuno, Potelle, Sven, Yildirim, Hamide, Duvet, Sandrine, Akula, Shyam K., Schulz, Celine, Wiame, Elsa, Gheldof, Alexander, O’Kane, Katherine, Lai, Abbe, Sermon, Karen, Proisy, Maïa, Loget, Philippe, Attié-Bitach, Tania, Quelin, Chloé, Fortuna, Ana Maria, Soares, Ana Rita, de Brouwer, Arjan P.M., Van Schaftingen, Emile, Nassogne, Marie-Cécile, Walsh, Christopher A., Stouffs, Katrien, Jorge, Paula, Jansen, Anna C., Foulquier, François
Được phát hành 2022Text -
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Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics Bằng Vandervore, Laura V, Schot, Rachel, Kasteleijn, Esmee, Oegema, Renske, Stouffs, Katrien, Gheldof, Alexander, Grochowska, Martyna M, van der Sterre, Marianne L T, van Unen, Leontine M A, Wilke, Martina, Elfferich, Peter, van der Spek, Peter J, Heijsman, Daphne, Grandone, Anna, Demmers, Jeroen A A, Dekkers, Dick H W, Slotman, Johan A, Kremers, Gert-Jan, Schaaf, Gerben J, Masius, Roy G, van Essen, Anton J, Rump, Patrick, van Haeringen, Arie, Peeters, Els, Altunoglu, Umut, Kalayci, Tugba, Poot, Raymond A, Dobyns, William B, Bahi-Buisson, Nadia, Verheijen, Frans W, Jansen, Anna C, Mancini, Grazia M S
Được phát hành 2019Text