Anti-SOX1 Antibodies in a 3-Year-old Girl, Post-Varicella

por Wijnand, Aline, Verhelst, Helene
Publicado 2023

Severe congenital microcephaly with AP4M1 mutation, a case report

por Duerinckx, Sarah, Verhelst, Helene, Perazzolo, Camille, David, Philippe, Desmyter, Laurence, Pirson, Isabelle, Abramowicz, Marc
Publicado 2017

Effect of Pycnogenol® on attention-deficit hyperactivity disorder (ADHD): study protocol for a randomised controlled trial

por Verlaet, Annelies A. J., Ceulemans, Berten, Verhelst, Helene, Van West, Dirk, De Bruyne, Tess, Pieters, Luc, Savelkoul, Huub F. J., Hermans, Nina
Publicado 2017

EFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex

por Fogarasi, Andras, De Waele, Liesbeth, Bartalini, Gabriella, Jozwiak, Sergiusz, Laforgia, Nicola, Verhelst, Helene, Petrak, Borivoj, Pedespan, Jean-Michel, Witt, Olaf, Castellana, Ramon, Crippa, Stefania, Gislimberti, Gabriella, Gyorsok, Zsuzsanna
Publicado 2016

Diagnosing enterovirus meningitis via blood transcriptomics: an alternative for lumbar puncture?

por Bartholomeus, Esther, De Neuter, Nicolas, Lemay, Annelies, Pattyn, Luc, Tuerlinckx, David, Weynants, David, Van Lede, Koen, van Berlaer, Gerlant, Bulckaert, Dominique, Boiy, Tine, Vander Auwera, Ann, Raes, Marc, Van der Linden, Dimitri, Verhelst, Helene, Van Steijn, Susanne, Jonckheer, Tijl, Dehoorne, Joke, Joos, Rik, Jansens, Hilde, Suls, Arvid, Van Damme, Pierre, Laukens, Kris, Mortier, Geert, Meysman, Pieter, Ogunjimi, Benson
Publicado 2019

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

por Duerinckx, Sarah, Désir, Julie, Perazzolo, Camille, Badoer, Cindy, Jacquemin, Valérie, Soblet, Julie, Maystadt, Isabelle, Tunca, Yusuf, Blaumeiser, Bettina, Ceulemans, Berten, Courtens, Winnie, Debray, François‐Guillaume, Destree, Anne, Devriendt, Koenraad, Jansen, Anna, Keymolen, Kathelijn, Lederer, Damien, Loeys, Bart, Meuwissen, Marije, Moortgat, Stéphanie, Mortier, Geert, Nassogne, Marie‐Cécile, Sekhara, Tayeb, Van Coster, Rudy, Van Den Ende, Jenny, Van der Aa, Nathalie, Van Esch, Hilde, Vanakker, Olivier, Verhelst, Helene, Vilain, Catheline, Weckhuysen, Sarah, Passemard, Sandrine, Verloes, Alain, Aeby, Alec, Deconinck, Nicolas, Van Bogaert, Patrick, Pirson, Isabelle, Abramowicz, Marc
Publicado 2021

Blood transcriptomics to facilitate diagnosis and stratification in pediatric rheumatic diseases – a proof of concept study

por Ha, My Kieu, Bartholomeus, Esther, Van Os, Luc, Dandelooy, Julie, Leysen, Julie, Aerts, Olivier, Siozopoulou, Vasiliki, De Smet, Eline, Gielen, Jan, Guerti, Khadija, De Maeseneer, Michel, Herregods, Nele, Lechkar, Bouchra, Wittoek, Ruth, Geens, Elke, Claes, Laura, Zaqout, Mahmoud, Dewals, Wendy, Lemay, Annelies, Tuerlinckx, David, Weynants, David, Vanlede, Koen, van Berlaer, Gerlant, Raes, Marc, Verhelst, Helene, Boiy, Tine, Van Damme, Pierre, Jansen, Anna C., Meuwissen, Marije, Sabato, Vito, Van Camp, Guy, Suls, Arvid, Werff ten Bosch, Jutte Van der, Dehoorne, Joke, Joos, Rik, Laukens, Kris, Meysman, Pieter, Ogunjimi, Benson
Publicado 2022

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

por Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M.M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D’Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.
Publicado 2018

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

por Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klaus, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanislas, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulus, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Louis, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith
Publicado 2022

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

por Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y., Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M., Gunay-Aygun, Meral, Muriello, Michael J., Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G., Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl A. A. P., Oegema, Renske, Mitchell, Wendy G., Pierson, Tyler Mark, Andrews, Marisa V., Willing, Marcia C., Rodan, Lance H., Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H., Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M., Hashem, Mais O., AlSayed, Moeenaldeen D., Abdulrahim, Maha M., Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel A. H., Faqeih, Eissa A., Asmari, Ali Al, Algain, Sulwan M., Jad, Lamyaa A., Aldhalaan, Hesham M., Helbig, Ingo, Koolen, David A., Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E., Klee, Eric W., Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A., Stewart, James C., Claridge-Chang, Adam, Lefeber, Dirk J., Alkuraya, Fowzan S., Mathuru, Ajay S., Venkatesh, Byrappa, Barycki, Joseph J., Simpson, Melanie A., Jamuar, Saumya S., Schöls, Ludger, Reversade, Bruno
Publicado 2020