Resultados de búsqueda - Lacaze, Elodie

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas por Isidor, Bertrand, Bourdeaut, Franck, Lafon, Delfine, Plessis, Ghislaine, Lacaze, Elodie, Kannengiesser, Caroline, Rossignol, Sylvie, Pichon, Olivier, Briand, Annaig, Martin-Coignard, Dominique, Piccione, Maria, David, Albert, Delattre, Olivier, Jeanpierre, Cécile, Sévenet, Nicolas, Le Caignec, Cédric

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Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene? por Ehret, Julia K., Engels, Hartmut, Cremer, Kirsten, Becker, Jessica, Zimmermann, Johannes P., Wohlleber, Eva, Grasshoff, Ute, Rossier, Eva, Bonin, Michael, Mangold, Elisabeth, Bevot, Andrea, Schön, Stefanie, Heilmann-Heimbach, Stefanie, Dennert, Nicola, Mathieu-Dramard, Michèle, Lacaze, Elodie, Plessis, Ghislaine, de Broca, Alain, Jedraszak, Guillaume, Röthlisberger, Benno, Miny, Peter, Filges, Isabel, Dufke, Andreas, Andrieux, Joris, Lee, Jennifer A., Zink, Alexander M.

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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly por Schanze, Ina, Bunt, Jens, Lim, Jonathan W.C., Schanze, Denny, Dean, Ryan J., Alders, Marielle, Blanchet, Patricia, Attié-Bitach, Tania, Berland, Siren, Boogert, Steven, Boppudi, Sangamitra, Bridges, Caitlin J., Cho, Megan T., Dobyns, William B., Donnai, Dian, Douglas, Jessica, Earl, Dawn L., Edwards, Timothy J., Faivre, Laurence, Fregeau, Brieana, Genevieve, David, Gérard, Marion, Gatinois, Vincent, Holder-Espinasse, Muriel, Huth, Samuel F., Izumi, Kosuke, Kerr, Bronwyn, Lacaze, Elodie, Lakeman, Phillis, Mahida, Sonal, Mirzaa, Ghayda M., Morgan, Sian M., Nowak, Catherine, Peeters, Hilde, Petit, Florence, Pilz, Daniela T., Puechberty, Jacques, Reinstein, Eyal, Rivière, Jean-Baptiste, Santani, Avni B., Schneider, Anouck, Sherr, Elliott H., Smith-Hicks, Constance, Wieland, Ilse, Zackai, Elaine, Zhao, Xiaonan, Gronostajski, Richard M., Zenker, Martin, Richards, Linda J.

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TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing por Lesueur, Fabienne, Eon-Marchais, Séverine, Bonnet-Boissinot, Sarah, Beauvallet, Juana, Dondon, Marie-Gabrielle, Golmard, Lisa, Rouleau, Etienne, Garrec, Céline, Martinez, Mathilde, Toulas, Christine, Nguyen, Tan Dat, Brayotel, Fanny, Crivelli, Louise, Maugard, Christine M., Bubien, Virginie, Sevenet, Nicolas, Gesta, Paul, Chieze-Valero, Stéphanie, Nambot, Sophie, Goussot, Vincent, Mari, Véronique, Popovici, Cornel, Prieur, Fabienne, Morin-Meschin, Marie-Emmanuelle, Tinat, Julie, Lortholary, Alain, Dreyfus, Hélène, Bidart, Marie, Collonge-Rame, Marie-Agnès, Mozelle-Nivoix, Monique, Gladieff, Laurence, Giraud, Sophie, Boutry-Kryza, Nadia, Chiesa, Jean, Denizeau, Philippe, Bignon, Yves-Jean, Uhrhammer, Nancy, Cohen-Haguenauer, Odile, Vilquin, Paul, Mailliez, Audrey, Coupier, Isabelle, Rey, Jean-Marc, Lacaze, Elodie, Béra, Odile, Colas, Chrystelle, Coulet, Florence, Delnatte, Capucine, Houdayer, Claude, Lasset, Christine, Lemonnier, Jérôme, Longy, Michel, Noguès, Catherine, Stoppa-Lyonnet, Dominique, Vaur, Dominique, Andrieu, Nadine, Caron, Olivier

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia por Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark, Senderek, Jan

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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia por Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair T, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Olgac Dundar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Català-Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark, Senderek, Jan

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