Výsledky vyhledávání - Vincent-Delorme, Catherine
- Zobrazuji výsledky 1 - 19 z 19
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A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome Autor Huynh, Minh-Tuan, Boudry-Labis, Elise, Massard, Alfred, Thuillier, Caroline, Delobel, Bruno, Duban-Bedu, Bénédicte, Vincent-Delorme, Catherine
Vydáno 2018Text -
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Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11 Autor Wentzel, Christian, Rajcan-Separovic, Evica, Ruivenkamp, Claudia A L, Chantot-Bastaraud, Sandra, Metay, Corinne, Andrieux, Joris, Annerén, Göran, Gijsbers, Antoinet C J, Druart, Luc, Hyon, Capucine, Portnoi, Marie-France, Stattin, Eva-Lena, Vincent-Delorme, Catherine, Kant, Sarina G, Steinraths, Michelle, Marlin, Sandrine, Giurgea, Irina, Thuresson, Ann-Charlotte
Vydáno 2011Text -
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Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network Autor Chassaing, Nicolas, Davis, Erica E., McKnight, Kelly L., Niederriter, Adrienne R., Causse, Alexandre, David, Véronique, Desmaison, Annaïck, Lamarre, Sophie, Vincent-Delorme, Catherine, Pasquier, Laurent, Coubes, Christine, Lacombe, Didier, Rossi, Massimiliano, Dufier, Jean-Louis, Dollfus, Helene, Kaplan, Josseline, Katsanis, Nicholas, Etchevers, Heather C., Faguer, Stanislas, Calvas, Patrick
Vydáno 2016Text -
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Expanding the KIF4A ‐associated phenotype Autor Kalantari, Silvia, Carlston, Colleen, Alsaleh, Norah, Abdel‐Salam, Ghada M. H., Alkuraya, Fowzan, Kato, Mitsuhiro, Matsumoto, Naomichi, Miyatake, Satoko, Yamamoto, Tatsuya, Fares‐Taie, Lucas, Rozet, Jean‐Michel, Chassaing, Nicolas, Vincent‐Delorme, Catherine, Kang‐Bellin, Anjeung, McWalter, Kirsty, Bupp, Caleb, Palen, Emily, Wagner, Monisa D., Niceta, Marcello, Cesario, Claudia, Milone, Roberta, Kaplan, Julie, Wadman, Erin, Dobyns, William B., Filges, Isabel
Vydáno 2021Text -
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Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia Autor Cavé, Hélène, Caye, Aurélie, Ghedira, Nehla, Capri, Yline, Pouvreau, Nathalie, Fillot, Natacha, Trimouille, Aurélien, Vignal, Cédric, Fenneteau, Odile, Alembik, Yves, Alessandri, Jean-Luc, Blanchet, Patricia, Boute, Odile, Bouvagnet, Patrice, David, Albert, Dieux Coeslier, Anne, Doray, Bérénice, Dulac, Olivier, Drouin-Garraud, Valérie, Gérard, Marion, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Lyonnet, Stanislas, Perrin, Laurence, Rio, Marlène, Roume, Joëlle, Sauvion, Sylvie, Toutain, Annick, Vincent-Delorme, Catherine, Willems, Marjorie, Baumann, Clarisse, Verloes, Alain
Vydáno 2016Text -
6
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons Autor Caubit, Xavier, Gubellini, Paolo, Andrieux, Joris, Roubertoux, Pierre L., Metwaly, Mehdi, Jacq, Bernard, Fatmi, Ahmed, Had-Aissouni, Laurence, Kwan, Kenneth Y., Salin, Pascal, Carlier, Michèle, Liedén, Agne, Rudd, Eva, Shinawi, Marwan, Vincent-Delorme, Catherine, Cuisset, Jean-Marie, Lemaitre, Marie-Pierre, Abderrehamane, Fatimetou, Duban, Bénédicte, Lemaitre, Jean-François, Woolf, Adrian S., Bockenhauer, Detlef, Severac, Dany, Dubois, Emeric, Zhu, Ying, Sestan, Nenad, Garratt, Alistair N., Goff, Lydia Kerkerian-Le, Fasano, Laurent
Vydáno 2016Text -
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A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria Autor van der Sluijs, Pleuntje J., Alders, Mariëlle, Dingemans, Alexander J. M., Parbhoo, Kareesma, van Bon, Bregje W., Dempsey, Jennifer C., Doherty, Dan, den Dunnen, Johan T., Gerkes, Erica H., Milller, Ilana M., Moortgat, Stephanie, Regier, Debra S., Ruivenkamp, Claudia A. L., Schmalz, Betsy, Smol, Thomas, Stuurman, Kyra E., Vincent-Delorme, Catherine, de Vries, Bert B. A., Sadikovic, Bekim, Hickey, Scott E., Rosenfeld, Jill A., Maystadt, Isabelle, Santen, Gijs W. E.
Vydáno 2021Text -
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Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum Autor Parker, Victoria E. R., Keppler-Noreuil, Kim M., Faivre, Laurence, Luu, Maxime, Oden, Neal L., De Silva, Leena, Sapp, Julie C., Andrews, Katrina, Bardou, Marc, Chen, Kong Y., Darling, Thomas N., Gautier, Elodie, Goldspiel, Barry R., Hadj-Rabia, Smail, Harris, Julie, Kounidas, Georgios, Kumar, Parag, Lindhurst, Marjorie J., Loffroy, Romaric, Martin, Ludovic, Phan, Alice, Rother, Kristina I., Widemann, Brigitte C., Wolters, Pamela L., Coubes, Christine, Pinson, Lucile, Willems, Marjolaine, Vincent-Delorme, Catherine, Vabres, Pierre, Semple, Robert K., Biesecker, Leslie G.
Vydáno 2018Text -
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New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms Autor Bode, Anna, Wood, Sian-Elin, Mullins, Jonathan G. L., Keramidas, Angelo, Cushion, Thomas D., Thomas, Rhys H., Pickrell, William O., Drew, Cheney J. G., Masri, Amira, Jones, Elizabeth A., Vassallo, Grace, Born, Alfred P., Alehan, Fusun, Aharoni, Sharon, Bannasch, Gerald, Bartsch, Marius, Kara, Bulent, Krause, Amanda, Karam, Elie G., Matta, Stephanie, Jain, Vivek, Mandel, Hanna, Freilinger, Michael, Graham, Gail E., Hobson, Emma, Chatfield, Sue, Vincent-Delorme, Catherine, Rahme, Jubran E., Afawi, Zaid, Berkovic, Samuel F., Howell, Owain W., Vanbellinghen, Jean-François, Rees, Mark I., Chung, Seo-Kyung, Lynch, Joseph W.
Vydáno 2013Text -
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Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model Autor Jurkute, Neringa, Bertacchi, Michele, Arno, Gavin, Tocco, Chiara, Kim, Ungsoo Samuel, Kruszewski, Adam M, Avery, Robert A, Bedoukian, Emma C, Han, Jinu, Ahn, Sung Jun, Pontikos, Nikolas, Acheson, James, Davagnanam, Indran, Bowman, Richard, Kaliakatsos, Marios, Gardham, Alice, Wakeling, Emma, Oluonye, Ngozi, Reddy, Maddy Ashwin, Clark, Elaine, Rosser, Elisabeth, Amati-Bonneau, Patrizia, Charif, Majida, Lenaers, Guy, Meunier, Isabelle, Defoort, Sabine, Vincent-Delorme, Catherine, Robson, Anthony G, Holder, Graham E, Jeanjean, Luc, Martinez-Monseny, Antonio, Vidal-Santacana, Mariona, Dominici, Chloé, Gaggioli, Cedric, Giordano, Nadia, Caleo, Matteo, Liu, Grant T, Webster, Andrew R, Studer, Michèle, Yu-Wai-Man, Patrick
Vydáno 2021Text -
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Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities Autor Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E. R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, Vabres, Pierre
Vydáno 2021Text -
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Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities Autor Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E. R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, Vabres, Pierre
Vydáno 2021Text -
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New insights into genotype–phenotype correlation for GLI3 mutations Autor 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
Vydáno 2015Text -
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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome Autor Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W., Waisfisz, Quinten, O’Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S., Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M.M., Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D., Bicknell, Louise S., van Haaften, Gijs
Vydáno 2022Text -
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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder Autor Mirzaa, Ghayda, Chong, Jessica X., Piton, Amélie, Popp, Bernt, Foss, Kimberly, Guo, Hui, Harripaul, Ricardo, Xia, Kun, Scheck, Joshua, Aldinger, Kimberly A., Sajan, Samin A., Tang, Sha, Bonneau, Dominique, Beck, Anita, White, Janson, Mahida, Sonal, Harris, Jacqueline, Smith-Hicks, Constance, Hoyer, Juliane, Zweier, Christiane, Reis, André, Thiel, Christian T., Jamra, Rami Abou, Zeid, Natasha, Yang, Amy, Farach, Laura S., Walsh, Laurence, Payne, Katelyn, Rohena, Luis, Velinov, Milen, Ziegler, Alban, Schaefer, Elise, Gatinois, Vincent, Geneviève, David, Simon, Marleen E.H., Kohler, Jennefer, Rotenberg, Joshua, Wheeler, Patricia, Larson, Austin, Ernst, Michelle E., Akman, Cigdem I., Westman, Rachel, Blanchet, Patricia, Schillaci, Lori-Anne, Vincent-Delorme, Catherine, Gripp, Karen W., Mattioli, Francesca, Guyader, Gwenaël Le, Gerard, Bénédicte, Mathieu-Dramard, Michèle, Morin, Gilles, Sasanfar, Roksana, Ayub, Muhammad, Vasli, Nasim, Yang, Sandra, Person, Rick, Monaghan, Kristin G., Nickerson, Deborah A., van Binsbergen, Ellen, Enns, Gregory M, Dries, Annika M, Rowe, Leah J, Tsai, Anne CH, Svihovec, Shayna, Friedman, Jennifer, Agha, Zehra, Qamar, Raheel, Rodan, Lance H., Martinez-Agosto, Julian, Ockeloen, Charlotte W., Vincent, Marie, Sunderland, William James, Bernstein, Jonathan A., Eichler, Evan E., Vincent, John B., Bamshad, Michael J.
Vydáno 2019Text -
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita Autor 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
Vydáno 2022Text -
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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Autor van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.
Vydáno 2018Text -
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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Autor van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Calvo, Amparo Sanchis, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.
Vydáno 2019Text -
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Autor Jacquemont, Sébastien, Reymond, Alexandre, Zufferey, Flore, Harewood, Louise, Walters, Robin G., Kutalik, Zoltán, Martinet, Danielle, Shen, Yiping, Valsesia, Armand, Beckmann, Noam D., Thorleifsson, Gudmar, Belfiore, Marco, Bouquillon, Sonia, Campion, Dominique, De Leeuw, Nicole, De Vries, Bert B. A., Esko, Tõnu, Fernandez, Bridget A., Fernández-Aranda, Fernando, Fernández-Real, José Manuel, Gratacòs, Mònica, Guilmatre, Audrey, Hoyer, Juliane, Jarvelin, Marjo-Riitta, Kooy, Frank R., Kurg, Ants, Le Caignec, Cédric, Männik, Katrin, Platt, Orah S., Sanlaville, Damien, Van Haelst, Mieke M., Villatoro Gomez, Sergi, Walha, Faida, Wu, Bai-Lin, Yu, Yongguo, Aboura, Azzedine, Addor, Marie-Claude, Alembik, Yves, Antonarakis, Stylianos E., Arveiler, Benoît, Barth, Magalie, Bednarek, Nathalie, Béna, Frédérique, Bergmann, Sven, Beri, Mylène, Bernardini, Laura, Blaumeiser, Bettina, Bonneau, Dominique, Bottani, Armand, Boute, Odile, Brunner, Han G., Cailley, Dorothée, Callier, Patrick, Chiesa, Jean, Chrast, Jacqueline, Coin, Lachlan, Coutton, Charles, Cuisset, Jean-Marie, Cuvellier, Jean-Christophe, David, Albert, De Freminville, Bénédicte, Delobel, Bruno, Delrue, Marie-Ange, Demeer, Bénédicte, Descamps, Dominique, Didelot, Gérard, Dieterich, Klaus, Disciglio, Vittoria, Doco-Fenzy, Martine, Drunat, Séverine, Duban-Bedu, Bénédicte, Dubourg, Christèle, El-Sayed Moustafa, Julia S., Elliott, Paul, Faas, Brigitte H. W., Faivre, Laurence, Faudet, Anne, Fellmann, Florence, Ferrarini, Alessandra, Fisher, Richard, Flori, Elisabeth, Forer, Lukas, Gaillard, Dominique, Gerard, Marion, Gieger, Christian, Gimelli, Stefania, Gimelli, Giorgio, Grabe, Hans J., Guichet, Agnès, Guillin, Olivier, Hartikainen, Anna-Liisa, Heron, Délphine, Hippolyte, Loyse, Holder, Muriel, Homuth, Georg, Isidor, Bertrand, Jaillard, Sylvie, Jaros, Zdenek, Jiménez-Murcia, Susana, Joly Helas, Géraldine, Jonveaux, Philippe, Kaksonen, Satu, Keren, Boris, Kloss-Brandstätter, Anita, Knoers, Nine V. A. M., Koolen, David A., Kroisel, Peter M., Kronenberg, Florian, Labalme, Audrey, Landais, Emilie, Lapi, Elisabetta, Layet, Valérie, Legallic, Solenn, Leheup, Bruno, Leube, Barbara, Lewis, Suzanne, Lucas, Josette, Macdermot, Kay D., Magnusson, Pall, Marshall, Christian R., Mathieu-Dramard, Michèle, Mccarthy, Mark I., Meitinger, Thomas, Antonietta Mencarelli, Maria, Merla, Giuseppe, Moerman, Alexandre, Mooser, Vincent, Morice-Picard, Fanny, Mucciolo, Mafalda, Nauck, Matthias, Coumba Ndiaye, Ndeye, Nordgren, Ann, Pasquier, Laurent, Petit, Florence, Pfundt, Rolph, Plessis, Ghislaine, Rajcan-Separovic, Evica, Paolo Ramelli, Gian, Rauch, Anita, Ravazzolo, Roberto, Reis, Andre, Renieri, Alessandra, Richart, Cristobal, Ried, Janina S., Rieubland, Claudine, Roberts, Wendy, Roetzer, Katharina M., Rooryck, Caroline, Rossi, Massimiliano, Saemundsen, Evald, Satre, Véronique, Schurmann, Claudia, Sigurdsson, Engilbert, Stavropoulos, Dimitri J., Stefansson, Hreinn, Tengström, Carola, Thorsteinsdóttir, Unnur, Tinahones, Francisco J., Touraine, Renaud, Vallée, Louis, Van Binsbergen, Ellen, Van Der Aa, Nathalie, Vincent-Delorme, Catherine, Visvikis-Siest, Sophie, Vollenweider, Peter, Völzke, Henry, Vulto-Van Silfhout, Anneke T., Waeber, Gérard, Wallgren-Pettersson, Carina, Witwicki, Robert M., Zwolinksi, Simon, Andrieux, Joris, Estivill, Xavier, Gusella, James F., Gustafsson, Omar, Metspalu, Andres, Scherer, Stephen W., Stefansson, Kari, Blakemore, Alexandra I. F., Beckmann, Jacques S., Froguel, Philippe
Vydáno 2011Text