检索结果 - Gheldof, Alexander

Genetic diagnosis of subfertility: the impact of meiosis and maternal effects 由 Gheldof, Alexander, Mackay, Deborah J G, Cheong, Ying, Verpoest, Willem

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Intra‐amniotic levothyroxine infusions in a case of fetal goiter due to novel Thyroglobulin gene variants 由 Pollé, Olivier G., Gheldof, Alexander, Lysy, Philippe A., Bernard, Pierre

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Ascites in infantile onset type II Sialidosis 由 Tazi, Kaoutar, Guy‐Viterbo, Vanessa, Gheldof, Alexander, Empain, Aurélie, Paternoster, Anne, De Laet, Corinne

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Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene 由 de Filette, Jeroen, Hasaerts, Danielle, Seneca, Sara, Gheldof, Alexander, Stouffs, Katrien, Keymolen, Kathelijn, Velkeniers, Brigitte

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Convert your favorite protein modeling program into a mutation predictor: “MODICT” 由 Tanyalcin, Ibrahim, Stouffs, Katrien, Daneels, Dorien, Al Assaf, Carla, Lissens, Willy, Jansen, Anna, Gheldof, Alexander

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Rare genetic variants potentially involved in ovarian hyperstimulation syndrome 由 Stouffs, Katrien, Daelemans, Sari, Santos-Ribeiro, Samuel, Seneca, Sara, Gheldof, Alexander, Gürbüz, Ali Sami, De Vos, Michel, Tournaye, Herman, Blockeel, Christophe

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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 由 Sassi, Asma, Désir, Julie, Janssens, Véronique, Marangoni, Martina, Daneels, Dorien, Gheldof, Alexander, Bonduelle, Maryse, Van Dooren, Sonia, Costagliola, Sabine, Delbaere, Anne

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Clinical implementation of gene panel testing for lysosomal storage diseases 由 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

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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 由 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.

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Expanding the clinical spectrum of biallelic ZNF335 variants 由 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.

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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder 由 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

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Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics 由 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

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