Search Results - Mignot, Cyril

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    DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7 by Laan, Liselot van der (Author) , Karimi, Karim (Author) , Rooney, Kathleen (Author) , Lauffer, Peter (Author) , McConkey, Haley (Author) , Caro, Pilar (Author) , Relator, Raissa (Author) , Levy, Michael A. (Author) , Bhai, Pratibha (Author) , Mignot, Cyril (Author) , Keren, Boris (Author) , Briuglia, Silvana (Author) , Sobering, Andrew K. (Author) , Li, Dong (Author) , Vissers, Lisenka E. L. M. (Author) , Dingemans, Alexander J. M. (Author) , Valenzuela, Irene (Author) , Verberne, Eline A. (Author) , Misra-Isrie, Mala (Author) , Zwijnenburg, Petra J. G. (Author) , Waisfisz, Quinten (Author) , Alders, Mariëlle (Author) , Sailer, Sebastian (Author) , Schaaf, Christian P. (Author) , Mannens, Marcel M. A. M. (Author) , Sadikovic, Bekim (Author) , van Haelst, Mieke M. (Author) , Henneman, Peter (Author) ,


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  2. 2
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    De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity by Tessarech, Marine (Author) , Friocourt, Gaëlle (Author) , Marguet, Florent (Author) , Lecointre, Maryline (Author) , Le Mao, Morgane (Author) , Díaz, Rodrigo Muñoz (Author) , Mignot, Cyril (Author) , Keren, Boris (Author) , Héron, Bénédicte (Author) , De Bie, Charlotte (Author) , Van Gassen, Koen (Author) , Loisel, Didier (Author) , Delorme, Benoit (Author) , Syrbe, Steffen (Author) , Klabunde-Cherwon, Annick (Author) , Jamra, Rami Abou (Author) , Wegler, Meret (Author) , Callewaert, Bert (Author) , Dheedene, Annelies (Author) , Zidane-Marinnes, Merzouka (Author) , Guichet, Agnès (Author) , Bris, Céline (Author) , Van Bogaert, Patrick (Author) , Biquard, Florence (Author) , Lenaers, Guy (Author) , Marcorelles, Pascale (Author) , Ferec, Claude (Author) , Gonzalez, Bruno (Author) , Procaccio, Vincent (Author) , Vitobello, Antonio (Author) , Bonneau, Dominique (Author) , Laquerriere, Annie (Author) , Khiati, Salim (Author) , Colin, Estelle (Author) ,


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  3. 3
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    Ketogenic diet treatment of defects in the mitochondrial malate aspartate shuttle and pyruvate carrier by Bölsterli Heinzle, Bigna (Author) , Boltshauser, Eugen (Author) , Palmieri, Luigi (Author) , Spenger, Johannes (Author) , Brunner-Krainz, Michaela (Author) , Distelmaier, Felix (Author) , Freisinger, Peter (Author) , Geis, Tobias (Author) , Gropman, Andrea L. (Author) , Häberle, Johannes (Author) , Hentschel, Julia (Author) , Jeandidier, Bruno (Author) , Karall, Daniela (Author) , Keren, Boris (Author) , Klabunde-Cherwon, Annick (Author) , Konstantopoulou, Vassiliki (Author) , Kottke, Raimund (Author) , Lasorsa, Francesco M. (Author) , Makowski, Christine (Author) , Mignot, Cyril (Author) , O’Gorman Tuura, Ruth (Author) , Porcelli, Vito (Author) , Santer, René (Author) , Sen, Kuntal (Author) , Steinbrücker, Katja (Author) , Syrbe, Steffen (Author) , Wagner, Matias (Author) , Ziegler, Andreas (Author) , Zöggeler, Thomas (Author) , Mayr, Johannes A. (Author) , Prokisch, Holger (Author) , Wortmann, Saskia B. (Author) ,


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    Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling by Holtz, Alexander M. (Author) , VanCoillie, Rachel (Author) , Vansickle, Elizabeth A. (Author) , Carere, Deanna Alexis (Author) , Withrow, Kara (Author) , Torti, Erin (Author) , Juusola, Jane (Author) , Millan, Francisca (Author) , Person, Richard (Author) , Guillen Sacoto, Maria J. (Author) , Si, Yue (Author) , Wentzensen, Ingrid M. (Author) , Pugh, Jada (Author) , Vasileiou, Georgia (Author) , Rieger, Melissa (Author) , Reis, André (Author) , Argilli, Emanuela (Author) , Sherr, Elliott H. (Author) , Aldinger, Kimberly A. (Author) , Dobyns, William B. (Author) , Brunet, Theresa (Author) , Hoefele, Julia (Author) , Wagner, Matias (Author) , Haber, Benjamin (Author) , Kotzaeridou, Urania (Author) , Keren, Boris (Author) , Heron, Delphine (Author) , Mignot, Cyril (Author) , Heide, Solveig (Author) , Courtin, Thomas (Author) , Buratti, Julien (Author) , Murugasen, Serini (Author) , Donald, Kirsten A. (Author) , O’Heir, Emily (Author) , Moody, Shade (Author) , Kim, Katherine H. (Author) , Burton, Barbara K. (Author) , Yoon, Grace (Author) , Campo, Miguel del (Author) , Masser-Frye, Diane (Author) , Kozenko, Mariya (Author) , Parkinson, Christina (Author) , Sell, Susan L. (Author) , Gordon, Patricia L. (Author) , Prokop, Jeremy W. (Author) , Karaa, Amel (Author) , Bupp, Caleb (Author) , Raby, Benjamin A. (Author) ,


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