المؤلفون: Colson, Cindy, Tessarech, Marine, Boucher‐Brischoux, Elise, Boute‐Benejean, Odile, Vincent‐Delorme, Catherine, Vanlerberghe, Clémence, Boussion, Simon, Cunff, Justine Le, Duban‐Bedu, Bénédicte, Faivre, Laurence, Thauvin, Christel, Philippe, Christophe, Bruel, Ange‐Line, Tran Mau‐Them, Frédéric, Houdayer, Clara, Lesca, Gaetan, Putoux, Audrey, Lévy, Jonathan, Patat, Olivier, Rio, Marlène, Ghoumid, Jamal, Smol, Thomas

المصدر: Clinical Genetics ; ISSN 0009-9163 1399-0004

الاتاحة: https://doi.org/10.1111/cge.14688
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14688

المؤلفون: Cuccurullo, Claudia, Cerulli Irelli, Emanuele, Ugga, Lorenzo, Riva, Antonella, D'Amico, Alessandra, Cabet, Sara, Lesca, Gaetan, Bilo, Leonilda, Zara, Federico, Iliescu, Catrinel, Barca, Diana, Fung, France, Helbig, Katherine, Ortiz-Gonzalez, Xilma, Schelhaas, Helenius J, Willemsen, Marjolein H, van der Linden, Inge, Canafoglia, Laura, Courage, Carolina, Gommaraschi, Samuele, Gonzalez-Alegre, Pedro, Bardakjian, Tanya, Syrbe, Steffen, Schuler, Elisabeth, Lemke, Johannes R, Vari, Stella, Roende, Gitte, Bak, Mads, Huq, Mahbulul, Powis, Zoe, Johannesen, Katrine M, Hammer, Trine Bjørg, Møller, Rikke S, Rabin, Rachel, Pappas, John, Zupanc, Mary L, Zadeh, Neda, Cohen, Julie, Naidu, Sakkubai, Krey, Ilona, Saneto, Russell, Thies, Jenny, Licchetta, Laura, Tinuper, Paolo, Bisulli, Francesca, Minardi, Raffaella, Bayat, Allan, Villeneuve, Nathalie, Molinari, Florence, Salimi Dafsari, Hormos, Moller, Birk, Le Roux, Marie, Houdayer, Clara, Vecchi, Marilena, Mammi, Isabella, Fiorini, Elena, Proietti, Jacopo, Ferri, Sofia, Cantalupo, Gaetano, Battaglia, Domenica Immacolata, Gambardella, Maria Luigia, Contaldo, Ilaria, Brogna, Claudia, Trivisano, Marina, De Dominicis, Angela, Bova, Stefania Maria, Gardella, Elena, Striano, Pasquale, Coppola, Antonietta

المساهمون: Cuccurullo, Claudia, Cerulli Irelli, Emanuele, Ugga, Lorenzo, Riva, Antonella, D'Amico, Alessandra, Cabet, Sara, Lesca, Gaetan, Bilo, Leonilda, Zara, Federico, Iliescu, Catrinel, Barca, Diana, Fung, France, Helbig, Katherine, Ortiz-Gonzalez, Xilma, Schelhaas, Helenius J, Willemsen, Marjolein H, van der Linden, Inge, Canafoglia, Laura, Courage, Carolina, Gommaraschi, Samuele, Gonzalez-Alegre, Pedro, Bardakjian, Tanya, Syrbe, Steffen, Schuler, Elisabeth, Lemke, Johannes R, Vari, Stella, Roende, Gitte, Bak, Mad, Huq, Mahbulul, Powis, Zoe, Johannesen, Katrine M, Hammer, Trine Bjørg, Møller, Rikke S, Rabin, Rachel, Pappas, John, Zupanc, Mary L, Zadeh, Neda, Cohen, Julie, Naidu, Sakkubai, Krey, Ilona, Saneto, Russell, Thies, Jenny, Licchetta, Laura, Tinuper, Paolo, Bisulli, Francesca, Minardi, Raffaella, Bayat, Allan, Villeneuve, Nathalie, Molinari, Florence, Salimi Dafsari, Hormo, Moller, Birk, Le Roux, Marie, Houdayer, Clara, Vecchi, Marilena, Mammi, Isabella, Fiorini, Elena, Proietti, Jacopo, Ferri, Sofia, Cantalupo, Gaetano, Battaglia, Domenica Immacolata, Gambardella, Maria Luigia, Contaldo, Ilaria, Brogna, Claudia, Trivisano, Marina, De Dominicis, Angela, Bova, Stefania Maria, Gardella, Elena, Striano, Pasquale, Coppola, Antonietta

مصطلحات موضوعية: DYNC1H1‐related epilepsy, MCD, dynein, infantile epileptic spasms syndrome, lissencephaly/pachygyria

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/38953796; info:eu-repo/semantics/altIdentifier/wos/WOS:001260785600001; volume:65; issue:9; firstpage:N/A; lastpage:N/A; journal:EPILEPSIA; https://hdl.handle.net/11567/1224295

الاتاحة: https://hdl.handle.net/11567/1224295
https://doi.org/10.1111/epi.18054

المؤلفون: Houdayer, Clara, Phillips, A Marie, Chabbert, Marie, Bourreau, Jennifer, Maroofian, Reza, Houlden, Henry, Richards, Kay, Saadi, Nebal Waill, Dad'ová, Eliška, Van Bogaert, Patrick, Rupin, Mailys, Keren, Boris, Charles, Perrine, Smol, Thomas, Riquet, Audrey, Pais, Lynn, O'Donnell-Luria, Anne, VanNoy, Grace E, Bayat, Allan, Møller, Rikke S, Olofsson, Kern, Abou Jamra, Rami, Syrbe, Steffen, Dasouki, Majed, Seaver, Laurie H, Sullivan, Jennifer A, Shashi, Vandana, Alkuraya, Fowzan S, Poss, Alexis F, Spence, J Edward, Schnur, Rhonda E, Forster, Ian C, Mckenzie, Chaseley E, Simons, Cas, Wang, Min, Snell, Penny, Kothur, Kavitha, Buckley, Michael, Roscioli, Tony, Elserafy, Noha, Dauriat, Benjamin, Procaccio, Vincent, Henrion, Daniel, Lenaers, Guy, Colin, Estelle, Verbeek, Nienke E, Van Gassen, Koen L, Legendre, Claire, Bonneau, Dominique, Reid, Christopher A, Howell, Katherine B, Ziegler, Alban, Legros, Christian

المصدر: Houdayer , C , Phillips , A M , Chabbert , M , Bourreau , J , Maroofian , R , Houlden , H , Richards , K , Saadi , N W , Dad'ová , E , Van Bogaert , P , Rupin , M , Keren , B , Charles , P , Smol , T , Riquet , A , Pais , L , O'Donnell-Luria , A , VanNoy , G E , Bayat , A , Møller , R S , Olofsson , K , Abou Jamra , R , Syrbe , S , Dasouki , M , Seaver , L H , Sullivan , J A , Shashi , V , Alkuraya , F S , Poss , A F , Spence , J E , Schnur , R E , Forster , I C , Mckenzie , C E , Simons , C , Wang , M , Snell , P , Kothur , K , Buckley , M , Roscioli , T , Elserafy , N , Dauriat , B , Procaccio , V , Henrion , D , Lenaers , G , Colin , E , Verbeek , N E , Van Gassen , K L , Legendre , C , Bonneau , D , Reid , C A , Howell , K B , Ziegler , A & Legros , C 2024 ' Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders ' medRxiv .

مصطلحات الفهرس: workingPaper

URL: https://curis.ku.dk/portal/da/publications/mono-and-biallelic-variants-in-hcn2-cause-severe-neurodevelopmental-disorders(602b55ec-9937-4fd6-91b1-0c0f413ab3ff).html
https://doi.org/10.1101/2024.03.19.24303984
https://curis.ku.dk/ws/files/390507927/2024.03.19.24303984v1.full.pdf

المؤلفون: Milon, Vincent, Malinge, Marie-Claire, Blanluet, Maud, Tessarech, Marine, Battault, Clarisse, Prestwich, Sarah, Vary, Béatrice, Gueracher, Pierre, Legoff, Louis, Barth, Magalie, Houdayer, Clara, Guichet, Agnès, Rousseau, Audrey, Bonneau, Dominique, Procaccio, Vincent, Bris, Céline, Colin, Estelle

المصدر: European Journal of Human Genetics ; ISSN 1018-4813 1476-5438

الاتاحة: https://doi.org/10.1038/s41431-024-01658-z
https://www.nature.com/articles/s41431-024-01658-z.pdf
https://www.nature.com/articles/s41431-024-01658-z

المؤلفون: Houdayer, Clara, Ziegler, Alban, Boussion, Françoise, Blesson, Sophie, Bris, Céline, Toutain, Annick, Biquard, Florence, Guichet, Agnès, Bonneau, Dominique, Colin, Estelle

المصدر: The Journal of Maternal-Fetal & Neonatal Medicine ; volume 34, issue 13, page 2217-2220 ; ISSN 1476-7058 1476-4954

الاتاحة: http://dx.doi.org/10.1080/14767058.2019.1657084
https://www.tandfonline.com/doi/pdf/10.1080/14767058.2019.1657084

المؤلفون: Milon, Vincent, Malinge, Marie-Claire, Blanluet, Maud, Tessarech, Marine, Battault, Clarisse, Prestwich, Sarah, Vary, Béatrice, Gueracher, Pierre, Legoff, Louis, Barth, Magalie, Houdayer, Clara, Guichet, Agnès, Rousseau, Audrey, Bonneau, Dominique, Procaccio, Vincent, Bris, Céline, Colin, Estelle

المصدر: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-9, 9p

المؤلفون: Ziegler, Alban, Bader, Patricia, Mcwalter, Kirsty, Douglas, Ganka, Houdayer, Clara, Bris, Céline, Rouleau, Stéphanie, Coutant, Régis, Colin, Estelle, Bonneau, Dominique

المساهمون: GeneDx Gaithersburg, MD, USA, MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Néonatalogie, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)

المصدر: ISSN: 0009-9163.

مصطلحات موضوعية: premature ovarian failure, recessive intellectual disability, triple T complex, TTI2, [SDV]Life Sciences [q-bio]

Relation: hal-02616938; https://univ-angers.hal.science/hal-02616938; OKINA: ua20212

الاتاحة: https://univ-angers.hal.science/hal-02616938
https://doi.org/10.1111/cge.13603

المؤلفون: Houdayer, Clara, Ziegler, Alban, Boussion, Françoise, Blesson, Sophie, Bris, Céline, Toutain, Annick, Biquard, Florence, Guichet, Agnès, Bonneau, Dominique, Colin, Estelle

المصدر: Journal of Maternal-Fetal & Neonatal Medicine; Jul2021, Vol. 34 Issue 13, p2217-2220, 4p

مصطلحات موضوعية: ULTRASONIC imaging, PRENATAL diagnosis, DYSPLASIA, JOINT hypermobility, SHORT stature, METAPLASTIC ossification, CRANIOFACIAL abnormalities, MENTAL health surveys, POLYDACTYLY, DWARFISM