نتائج البحث - Gheldof, Alexander

Genetic diagnosis of subfertility: the impact of meiosis and maternal effects حسب 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 حسب Pollé, Olivier G., Gheldof, Alexander, Lysy, Philippe A., Bernard, Pierre

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Ascites in infantile onset type II Sialidosis حسب 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 حسب 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” حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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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