Treffer 1 - 20 von 21 für Suche 'Fry, Astrid F', Suchdauer: 1,21s Treffer weiter einschränken
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    Prevalence and architecture of de novo mutations in developmental disorders von McRae, Jeremy F, Clayton, Stephen, Mason, Laura E, Tivey, Adrian R, Ahmed, Munaza, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Bennett, Chris, Bernhard, Birgitta, Bevan, A. Paul, Blair, Edward, Blyth, Moira, Burn, John, Castle, Bruce, Clasper, Susan, Collins, Amanda, Collinson, Morag N, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, Dean, John, Donnai, Dian, Ellard, Sian, Ellis, Ian, Everest, Sarah, Foulds, Nicola, Fryer, Alan, Gaunt, Lorraine, Goudie, David, Gray, Emma, Greene, Philip, Gribble, Susan, Henderson, Alex, Hildyard, Lucy, Holden, Simon, Holder, Muriel, Ingram, Stuart, Jackson, Andrew, Kaemba, Beckie, Kazembe, Sandra, Kinning, Esther, Kraus, Alison, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lim, Derek, Longman, Cheryl, Lynch, Sally A, Maher, Eddy, Maye, Una, McKay, Kirsten, McWilliam, Catherine, Metcalfe, Kay, Morgan, Sian, Murday, Victoria, Murphy, Helen, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Park, Soo-Mi, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Pratt, Norman, Quarrell, Oliver, Randall, Josh, Rankin, Julia, Raymond, Lucy, Robert, Leema, Roberts, Paul, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Selby, Ann, Sequeira, Cheryl, Shearing, Emma, Smith, Audrey, Smith, Kath, Splitt, Miranda, Suri, Mohnish, Sutton, Vivienne, Tatton-Brown, Kate, Temple, I. Karen, Turner, Claire, Varghese, Vinod, Vasudevan, Pradeep, Vogt, Julie, Wakeling, Emma, Wilcox, Sarah, Williams, Denise, Williams, Nicola, Wilson, Louise, Wright, Michael, Yates, Laura, Yau, Michael, Wright, Caroline F, FitzPatrick, David R, Barrett, Jeffrey C

    Veröffentlicht in Nature (London)

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    CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language von Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.

    Veröffentlicht in Nature communications

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    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy von Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Basinger, Alice A., Ceulemans, Sophia, Charles, Perrine, McRae, Jeremy F., Rajan, Diana, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Ahmed, Munaza, Anjum, Uruj, Armstrong, Ruth, Barnicoat, Angela, Bennett, Chris, Blair, Edward, Blyth, Moira, Bourdon, Louise, Brady, Angela, Burn, John, Canham, Natalie, Cilliers, Deirdre, Clayton-Smith, Jill, Coates, Andrea, Cooper, Nicola, Dabir, Tabib, Davies, Sally, Dean, John, Devlin, Gemma, Donnai, Dian, Donnelly, Carina, Evans, Karenza, Fendick, Tina, Goodship, Judith, Green, Andrew, Harrison, Lucy, Holden, Simon, Jarvis, Joanna, Johnson, Diana, Jones, Elizabeth, Kumar, V. K. Ajith, Lachlan, Katherine, Langman, Caroline, Maye, Una, McMullan, Dominic J., McWilliam, Catherine, Metcalfe, Kay, Norman, Andrew, Ogilvie, Caroline, Park, Soo-Mi, Phipps, Julie, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Ross, Alison, Sampson, Julian, Shannon, Nora, Skitt, Zara, Stewart, Fiona, Stewart, Helen, Swaminathan, Ganesh Jawahar, Taylor, Cat, Tein, Mark, Treacy, Becky, Vandersteen, Anthony, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Parker, Michael, FitzPatrick, David R., Demurger, Florence, Eiset, Saga Elise, Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Jonasson, Amy R., Kok, Fernando, Marcelis, Carlo L.M., McWalter, Kirsty, Mercimek-Andrews, Saadet, Person, Richard, Ramelli, Gian Paolo, Rauch, Anita, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Trauner, Doris A., Vogel, Ida, Widjaja, Elysa, Zak, Jaroslav, Banka, Siddharth, Rodan, Lance H.


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    Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8 von Fujinami, Kaoru, Audo, Isabelle S, Birch, David G, Bomotti, Samantha M, Marino, Meghan J, Sahel, José-Alain, Sunness, Janet S, Wojciechowski, Robert, Zrenner, Eberhart, Michaelides, Michel, Scholl, Hendrik PN, Strauss, Rupert W, Wolfson, Yulia, Shah, Syed Mahmood, Ahmed, Mohamed, Fujinami, Kaoru, Traboulsi, Elias, Marino, Meghan, Crowe, Susan, Fecko, Tami, Applegate, Carol, Esposti, Simona Degli, Webster, Andrew, Connor, Sophie, Barnfield, Jade, Alfageme, Clara, Pefkianaki, Maria, Aboshiha, Jonathan, Liew, Gerald, Holder, Graham, Cajas Narvaez, Daniela Ivanova, Grigg, Catherine, Rughani, Avani, Amoah, Charles, Bibi, Kanom, Begum, Hamida, Carter, Andrew, Shinmar, Harpreet, Bernstein, Paul, Wegner, Kimberley, Carlstrom, Bonnie, Farnsworth, Kellian, Fry, Cyrie, Chandler, Melissa, Birch, David, Wang, Yi-Zhong, Rodriguez, Luis, Klein, Martin, Mejia, Paulina, Cideciyan, Artur V, Matsui, Rodrigo, Gruzensky, Michaela, Hahn, Gesa Astrid, Wilhelm, Barbara, Peters, Tobias, Koenig, Tilman, Kramer, Susanne, Mohand-Said, Saddek, Zeitz, Christina, Boyard, Fiona, Tran, Minh Ha, Chapon, Mathias, Emmert, David G, Herring, Mark, Bassinger, Jennifer, West, Sheila K, Ip, Michael S, Ho, Alex, Uji, Akihito, Hariri, Amirhossein, Elshafei, Anthony, Jenkins, Dennis, Baghdasaryan, Elmira, Samson, Feliz, Akil, Handan, Lei, Jianqin, Falavarjani, Khalil G, Espino, Kristina, Roded, Netali, Saleh, Nizar, Huang, Ping, Margaryan, Teresa, Murillo, Yamileth, Santos, Lisa, Perez, Silvia, Chao, Stephanie, Luna, Zoila, Menchaca, Anita, Robledo, Vicky, Baker, Kirstie, Bluemel, Daniel, Nava, Lorane, Oberoi, Michelle, Romero, Mark, Chiguil, Vivian, Bynum-Bain, Grantley, Mendiguren, Carolina, Huang, Xiwen, Eberhart, Zrenner, Hahn, Gesa


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    Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language von Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.

    Veröffentlicht in Nature communications

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    The contribution of X-linked coding variation to severe developmental disorders von Gardner, Eugene J, Sifrim, Alejandro, Neville, Matthew D. C, Gallone, Giuseppe, FitzPatrick, David R, Firth, Helen V, Borras, Silvia, Clark, Caroline, Miedzybrodzka, Zosia, Donnelly, Deirdre, Magee, Alex, McKee, Shane, Morrison, Patrick J, Stewart, Fiona, Cooper, Nicola, Islam, Lily, Jarvis, Joanna, Lim, Derek, Morton, Jenny, Ong, Kai-Ren, Turton, Sarah, Vogt, Julie, Hills, Alison, Low, Karen, Newbury-Ecob, Ruth, Scurr, Ingrid, Tooley, Madeleine, Armstrong, Ruth, Holden, Simon, Reid, Evan, Woods, Geoff, Bradley, Lisa, Comerford, Joanne, Mavrak, Eleni, Cleary, Elaine, Baple, Emma, Brewer, Carole, Kivuva, Emma, Turnpenny, Peter, Bradley, Therese, Davidson, Rosemarie, Whiteford, Margo, Barnicoat, Angela, Hurst, Jane, Jenkins, Lucy, Jones, Wendy, Kumar, V.K.Ajith, Lees, Melissa, Male, Alison, Rosser, Elisabeth, Josifova, Dragana, Roworth, Wendy, Ryten, Mina, Yau, Shu, Campbell, Jennifer, Coates, Andrea, Dobbie, Angus, Jewell, Rosalyn, Dixit, Abhijit, Harrison, Rachel, Sharif, Abid, Suri, Mohnish, Vasudevan, Pradeep, Canham, Natalie, Howard, Emma, Weber, Astrid, Clayton-Smith, Jill, Douzgou, Sofia, Kerr, Bronwyn, Wright, Ronnie, Bourn, David, Hellens, Steve, Montgomery, Tara, Straub, Volker, Allen, Zoe, Bernhard, Birgitta, Brady, Angela, Brooks, Claire, Holder, Susan, Carmichael, Jenny, Kini, Usha, Nemeth, Andrea, Wilkie, Andrew, Albaba, Shadi, Baker, Duncan, Balasubramanian, Meena, Johnson, Diana, Stewart, Alison, Crosby, Charlene, Jin, Huilin, Lahiri, Nayana, Kamath, Arveen, Mugalaasi, Hood, Pottinger, Caroline, Procter, Annie, Varghese, Vinod, Daniels, Stacey, Hunt, David, Lachlan, Katherine, Wellesley, Diana

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