Treffer 1 - 20 von 23 für Suche 'Rankin, Victoria E', Suchdauer: 1,83s 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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    Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections von Mis, Emily K., Brodsky, Nina N., Ionita, Cristian, Darbinyan, Armine, Drummond-Borg, Margaret, McGee, Elisabeth, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Sapp, Katie, McKee, Shane, Rea, Gillian, Cooper, Nicola, O’Driscoll, Mary, Scurr, Ingrid, Abbs, Steve, Armstrong, Ruth, Raymond, Lucy, Green, Andrew, Cleary, Elaine, Lampe, Anne, Castle, Bruce, Loughlin, Sam, Izatt, Louise, Roworth, Wendy, Yau, Shu, Jewell, Rosalyn, Sarkar, Ajoy, Canham, Natalie, Burkitt-Wright, Emma, Jones, Elizabeth, Smith, Audrey, Wright, Ronnie, Henderson, Alex, Allen, Zoe, Bernhard, Birgitta, Busby, Louise, Clowes, Virginia, Blair, Edward, Stewart, Alison, Kamath, Arveen, Halai, D., Holman, J.E., Jackson, R., Lopez, F.J., Rogers, T., Savage, K., Sieghart, A., Thomas, E.R.A., Thompson, S.R., Tucci, A., Alejandro, Mercedes E., Amendola, Laura, Andrews, Ashley, Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bamshad, Michael, Bayrak-Toydemir, Pinar, Botto, Lorenzo, Coakley, Terra R., Coggins, Matthew, Cooper, Cynthia M., Cunningham, Michael, Dai, Hongzheng, Duncan, Laura, Fieg, Elizabeth L., Forghani, Irman, Hahn, Sihoun, Hanchard, Neil A., Hayes, Nichole, High, Frances, Hisama, Fuki M., Holm, Ingrid A., Jamal, Fariha, Kennedy, Jennifer, LeBlanc, Kimberly, Macnamara, Ellen F., Maduro, Valerie V., Mak, Bryan, McCauley, Jacob, McGee, Elisabeth, Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Pace, Laura, Potocki, Lorraine, Quinlan, Aaron, Raja, Archana N., Robertson, Amy K., Rodan, Lance H., Saporta, Mario, Schaechter, Judy, Signer, Rebecca, Solem, Emily, Solnica-Krezel, Lilianna, Sutton, Shirley, Velinder, Matt, Wheeler, Matthew T., Khokha, Mustafa K.

    Veröffentlicht in Genetics in medicine

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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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    Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language von Blok, Lot Snijders, 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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    Prevalence and architecture of de novo mutations in developmental disorders von Clayton, Stephen, Tivey, Adrian, 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, Connell, Fiona C, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, Dean, John, Donnai, Dian, Donnelly, C, Ellard, Sian, Ellis, Ian, Everest, Sarah, Foulds, Nicola, Fry, Andrew E, Fryer, Alan, Gray, Emma, Greene, Philip, Gribble, Susan, Henderson, Alex, Hildyard, Lucy, Holden, Simon, Holder, Muriel, Jarvis, Joanna, Jenkins, Lucy, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kirk, Claire, Kumar, Dhavendra, Kumar, V. K. Ajith, Lynch, Sally A, Maher, Eddy, Mansour, Sahar, Marks, Karen, McConnell, Vivienne, McEntagart, Meriel, McNerlan, Susan, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma K, Mohammed, Shehla, Moore, David, Morton, Jenny E, Norman, Andrew, Ogilvie, Caroline, Parker, Michael J, Payne, Stewart J, Perrett, Daniel, Pilz, Daniela T, Pratt, Norman, Price, Sue, Pridham, Abigail, Procter, Annie M, Ragge, Nicola, Randall, Joshua, Rice, Debbie, Roberts, Eileen, Ross, Alison, Rosser, Elisabeth, Sandford, Richard, Schweiger, Susann, Shaw-Smith, Charles, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Straub, Volker, Swaminathan, Ganesh Jawahar, Tatton-Brown, Kate, Taylor, Rohan, Temple, I. Karen, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Vandersteen, Anthony, Vogt, Julie, Wellesley, Diana, Wilkinson, Emily, Woods, Geoff, Wright, Michael, Yates, Laura, Firth, Helen V, FitzPatrickd, David R


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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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