Søgeresultater - Afenjar, Alexandra

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome af Lebrun, Nicolas, Giurgea, Irina, Goldenberg, Alice, Dieux, Anne, Afenjar, Alexandra, Ghoumid, Jamal, Diebold, Bertrand, Mietton, Léo, Briand-Suleau, Audrey, Billuart, Pierre, Bienvenu, Thierry

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Congenital immobility and stiffness related to biallelic ATAD1 variants af Bunod, Roxane, Doummar, Diane, Whalen, Sandra, Keren, Boris, Chantot-Bastaraud, Sandra, Maincent, Kim, Villy, Marie-Charlotte, Mayer, Michèle, Rodriguez, Diana, Burglen, Lydie, Léger, Pierre-Louis, Kieffer, François, Martin, Isabelle, Héron, Delphine, Buratti, Julien, Isapof, Arnaud, Afenjar, Alexandra, Billette de Villemeur, Thierry, Mignot, Cyril

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Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders af Nava, Caroline, Keren, Boris, Mignot, Cyril, Rastetter, Agnès, Chantot-Bastaraud, Sandra, Faudet, Anne, Fonteneau, Eric, Amiet, Claire, Laurent, Claudine, Jacquette, Aurélia, Whalen, Sandra, Afenjar, Alexandra, Périsse, Didier, Doummar, Diane, Dorison, Nathalie, Leboyer, Marion, Siffroi, Jean-Pierre, Cohen, David, Brice, Alexis, Héron, Delphine, Depienne, Christel

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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient af Burglen, Lydie, Chantot-Bastaraud, Sandra, Garel, Catherine, Milh, Mathieu, Touraine, Renaud, Zanni, Ginevra, Petit, Florence, Afenjar, Alexandra, Goizet, Cyril, Barresi, Sabina, Coussement, Aurélie, Ioos, Christine, Lazaro, Leila, Joriot, Sylvie, Desguerre, Isabelle, Lacombe, Didier, des Portes, Vincent, Bertini, Enrico, Siffroi, Jean-Pierre, Billette de Villemeur, Thierry, Rodriguez, Diana

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Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations af Cameron, Jillian M., Maljevic, Snezana, Nair, Umesh, Aung, Ye Htet, Cogné, Benjamin, Bézieau, Stéphane, Blair, Edward, Isidor, Bertrand, Zweier, Christiane, Reis, André, Koenig, Mary Kay, Maarup, Timothy, Sarco, Dean, Afenjar, Alexandra, Huq, A. H. M. Mahbubul, Kukolich, Mary, Billette de Villemeur, Thierry, Nava, Caroline, Héron, Bénédicte, Petrou, Steven, Berkovic, Samuel F.

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Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females af Depienne, Christel, Bouteiller, Delphine, Keren, Boris, Cheuret, Emmanuel, Poirier, Karine, Trouillard, Oriane, Benyahia, Baya, Quelin, Chloé, Carpentier, Wassila, Julia, Sophie, Afenjar, Alexandra, Gautier, Agnès, Rivier, François, Meyer, Sophie, Berquin, Patrick, Hélias, Marie, Py, Isabelle, Rivera, Serge, Bahi-Buisson, Nadia, Gourfinkel-An, Isabelle, Cazeneuve, Cécile, Ruberg, Merle, Brice, Alexis, Nabbout, Rima, LeGuern, Eric

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Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females af Depienne, Christel, Bouteiller, Delphine, Keren, Boris, Cheuret, Emmanuel, Poirier, Karine, Trouillard, Oriane, Benyahia, Baya, Quelin, Chloé, Carpentier, Wassila, Julia, Sophie, Afenjar, Alexandra, Gautier, Agnès, Rivier, François, Meyer, Sophie, Berquin, Patrick, Hélias, Marie, Py, Isabelle, Rivera, Serge, Bahi-Buisson, Nadia, Gourfinkel-An, Isabelle, Cazeneuve, Cécile, Ruberg, Merle, Brice, Alexis, Nabbout, Rima, LeGuern, Eric

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A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies af Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, Charbit, Marina, Bole-Feysot, Christine, Nitschke, Patrick, Huber, Tobias B., Wheeler, Patricia G., Haynes, Devon, Juusola, Jane, Billette de Villemeur, Thierry, Nava, Caroline, Afenjar, Alexandra, Keren, Boris, Bodmer, Rolf, Antignac, Corinne, Simons, Matias

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Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies af Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, Charbit, Marina, Bole-Feysot, Christine, Nitschke, Patrick, Huber, Tobias B., Wheeler, Patricia G., Haynes, Devon, Juusola, Jane, de Villemeur, Thierry Billette, Nava, Caroline, Afenjar, Alexandra, Keren, Boris, Bodmer, Rolf, Antignac, Corinne, Simons, Matias

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Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction af Wang, Julia, Rousseau, Justine, Kim, Emily, Ehresmann, Sophie, Cheng, Yi-Ting, Duraine, Lita, Zuo, Zhongyuan, Park, Ye-Jin, Li-Kroeger, David, Bi, Weimin, Wong, Lee-Jun, Rosenfeld, Jill, Gleeson, Joseph, Faqeih, Eissa, Alkuraya, Fowzan S., Wierenga, Klaas J., Chen, Jiani, Afenjar, Alexandra, Nava, Caroline, Doummar, Diane, Keren, Boris, Juusola, Jane, Grompe, Markus, Bellen, Hugo J., Campeau, Philippe M.

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Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt af Rouxel, Flavien, Yauy, Kevin, Boursier, Guilaine, Gatinois, Vincent, Barat-Houari, Mouna, Sanchez, Elodie, Lacombe, Didier, Arpin, Stéphanie, Giuliano, Fabienne, Haye, Damien, Rio, Marlène, Toutain, Annick, Dieterich, Klaus, Brischoux-Boucher, Elise, Julia, Sophie, Nizon, Mathilde, Afenjar, Alexandra, Keren, Boris, Jacquette, Aurelia, Moutton, Sebastien, Jacquemont, Marie-Line, Duflos, Claire, Capri, Yline, Amiel, Jeanne, Blanchet, Patricia, Lyonnet, Stanislas, Sanlaville, Damien, Genevieve, David

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Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation af Coolen, Marion, Altin, Nami, Rajamani, Karthyayani, Pereira, Eva, Siquier-Pernet, Karine, Puig Lombardi, Emilia, Moreno, Nadjeda, Barcia, Giulia, Yvert, Marianne, Laquerrière, Annie, Pouliet, Aurore, Nitschké, Patrick, Boddaert, Nathalie, Rausell, Antonio, Razavi, Féréchté, Afenjar, Alexandra, Billette de Villemeur, Thierry, Al-Maawali, Almundher, Al-Thihli, Khalid, Baptista, Julia, Beleza-Meireles, Ana, Garel, Catherine, Legendre, Marine, Gelot, Antoinette, Burglen, Lydie, Moutton, Sébastien, Cantagrel, Vincent

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Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2 af Milh, Mathieu, Boutry-Kryza, Nadia, Sutera-Sardo, Julie, Mignot, Cyril, Auvin, Stéphane, Lacoste, Caroline, Villeneuve, Nathalie, Roubertie, Agathe, Heron, Bénédicte, Carneiro, Maryline, Kaminska, Anna, Altuzarra, Cécilia, Blanchard, Gaëlle, Ville, Dorothée, Barthez, Marie Anne, Heron, Delphine, Gras, Domitille, Afenjar, Alexandra, Dorison, Nathalie, Doummar, Dianne, Billette de Villemeur, Thierry, An, Isabelle, Jacquette, Aurélia, Charles, Perrine, Perrier, Julie, Isidor, Bertrand, Vercueil, Laurent, Chabrol, Brigitte, Badens, Catherine, Lesca, Gaétan, Villard, Laurent

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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms af Cheillan, David, Curt, Marie Joncquel-Chevalier, Briand, Gilbert, Salomons, Gajja S, Mention-Mulliez, Karine, Dobbelaere, Dries, Cuisset, Jean-Marie, Lion-François, Laurence, Portes, Vincent Des, Chabli, Allel, Valayannopoulos, Vassili, Benoist, Jean-François, Pinard, Jean-Marc, Simard, Gilles, Douay, Olivier, Deiva, Kumaran, Afenjar, Alexandra, Héron, Delphine, Rivier, François, Chabrol, Brigitte, Prieur, Fabienne, Cartault, François, Pitelet, Gaëlle, Goldenberg, Alice, Bekri, Soumeya, Gerard, Marion, Delorme, Richard, Tardieu, Marc, Porchet, Nicole, Vianey-Saban, Christine, Vamecq, Joseph

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Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome af Bauer, Michael, Kölsch, Uwe, Krüger, Renate, Unterwalder, Nadine, Hameister, Karin, Kaiser, Fabian Marc, Vignoli, Aglaia, Rossi, Rainer, Botella, Maria Pilar, Budisteanu, Magdalena, Rosello, Monica, Orellana, Carmen, Tejada, Maria Isabel, Papuc, Sorina Mihaela, Patat, Oliver, Julia, Sophie, Touraine, Renaud, Gomes, Thusari, Wenner, Kirsten, Xu, Xiu, Afenjar, Alexandra, Toutain, Annick, Philip, Nicole, Jezela-Stanek, Aleksandra, Gortner, Ludwig, Martinez, Francisco, Echenne, Bernard, Wahn, Volker, Meisel, Christian, Wieczorek, Dagmar, El-Chehadeh, Salima, Van Esch, Hilde, von Bernuth, Horst

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Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes af Coutelier, Marie, Hammer, Monia B., Stevanin, Giovanni, Monin, Marie-Lorraine, Davoine, Claire-Sophie, Mochel, Fanny, Labauge, Pierre, Ewenczyk, Claire, Ding, Jinhui, Gibbs, J. Raphael, Hannequin, Didier, Melki, Judith, Toutain, Annick, Laugel, Vincent, Forlani, Sylvie, Charles, Perrine, Broussolle, Emmanuel, Thobois, Stéphane, Afenjar, Alexandra, Anheim, Mathieu, Calvas, Patrick, Castelnovo, Giovanni, de Broucker, Thomas, Vidailhet, Marie, Moulignier, Antoine, Ghnassia, Robert T., Tallaksen, Chantal, Mignot, Cyril, Goizet, Cyril, Le Ber, Isabelle, Ollagnon-Roman, Elisabeth, Pouget, Jean, Brice, Alexis, Singleton, Andrew, Durr, Alexandra

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Myhre and LAPS syndromes: clinical and molecular review of 32 patients af Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marlène, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie

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Myhre and LAPS syndromes: clinical and molecular review of 32 patients af Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marléne, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie

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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism af Diets, Illja J., van der Donk, Roos, Baltrunaite, Kristina, Waanders, Esmé, Reijnders, Margot R.F., Dingemans, Alexander J.M., Pfundt, Rolph, Vulto-van Silfhout, Anneke T., Wiel, Laurens, Gilissen, Christian, Thevenon, Julien, Perrin, Laurence, Afenjar, Alexandra, Nava, Caroline, Keren, Boris, Bartz, Sarah, Peri, Bethany, Beunders, Gea, Verbeek, Nienke, van Gassen, Koen, Thiffault, Isabelle, Cadieux-Dion, Maxime, Huerta-Saenz, Lina, Wagner, Matias, Konstantopoulou, Vassiliki, Vodopiutz, Julia, Griese, Matthias, Boel, Annekatrien, Callewaert, Bert, Brunner, Han G., Kleefstra, Tjitske, Hoogerbrugge, Nicoline, de Vries, Bert B.A., Hwa, Vivian, Dauber, Andrew, Hehir-Kwa, Jayne Y., Kuiper, Roland P., Jongmans, Marjolijn C.J.

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New insights into genotype–phenotype correlation for GLI3 mutations af Démurger, Florence, Ichkou, Amale, Mougou-Zerelli, Soumaya, Le Merrer, Martine, Goudefroye, Géraldine, Delezoide, Anne-Lise, Quélin, Chloé, Manouvrier, Sylvie, Baujat, Geneviève, Fradin, Mélanie, Pasquier, Laurent, Megarbané, André, Faivre, Laurence, Baumann, Clarisse, Nampoothiri, Sheela, Roume, Joëlle, Isidor, Bertrand, Lacombe, Didier, Delrue, Marie-Ange, Mercier, Sandra, Philip, Nicole, Schaefer, Elise, Holder, Muriel, Krause, Amanda, Laffargue, Fanny, Sinico, Martine, Amram, Daniel, André, Gwenaelle, Liquier, Alain, Rossi, Massimiliano, Amiel, Jeanne, Giuliano, Fabienne, Boute, Odile, Dieux-Coeslier, Anne, Jacquemont, Marie-Line, Afenjar, Alexandra, Van Maldergem, Lionel, Lackmy-Port-Lis, Marylin, Vincent- Delorme, Catherine, Chauvet, Marie-Liesse, Cormier-Daire, Valérie, Devisme, Louise, Geneviève, David, Munnich, Arnold, Viot, Géraldine, Raoul, Odile, Romana, Serge, Gonzales, Marie, Encha-Razavi, Ferechte, Odent, Sylvie, Vekemans, Michel, Attie-Bitach, Tania

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