المؤلفون: 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, Jansen, Sandra, Brunner, Han G., Fisher, Simon E., Campeau, P.M.

المصدر: Snijders Blok , L , Rousseau , J , Twist , J , Ehresmann , S , Takaku , M , Venselaar , H , Rodan , L H , Nowak , C B , Douglas , J , Swoboda , K J , Steeves , M A , Sahai , I , Stumpel , C T R M , Stegmann , A P A , Wheeler , P , Willing , M , Fiala , E , Kochhar , A , Gibson , W T , Cohen , A S A , Agbahovbe , R , Innes , ....

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/ccabbb9c-e5a8-4865-9def-c1e368b21a55Test

الإتاحة: https://doi.org/10.1038/s41467-019-10161-9Test
https://cris.maastrichtuniversity.nl/en/publications/ccabbb9c-e5a8-4865-9def-c1e368b21a55Test

المؤلفون: 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.

المصدر: Nature Communications ; volume 10, issue 1 ; ISSN 2041-1723

مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41467-019-08800-2Test
https://www.nature.com/articles/s41467-019-08800-2.pdfTest
https://www.nature.com/articles/s41467-019-08800-2Test

المؤلفون: 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, Andre, 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, Faive, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.

المساهمون: Genetica Klinische Genetica, Brain, MS Gynaecologische Oncologie, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Child Health

مصطلحات موضوعية: General Chemistry, General Biochemistry,Genetics and Molecular Biology, General Physics and Astronomy

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/377203Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/377203Test

المؤلفون: 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, Stegmann, Alexander, 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, Monroe, Glen, R, van Gassen, Koen, L, van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes, A, Wortmann, Saskia, 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, Faive, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han, G., Wade, Paul, A, Fisher, Simon, Campeau, Philippe

المساهمون: Radboud University Medical Center Nijmegen, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, CHU Sainte Justine Montréal, Boston Children's Hospital, Massachusetts General Hospital Boston, School for Oncology and Developmental Biology Maastricht (GROW), Maastricht University Maastricht -Maastricht University Medical Centre (MUMC), Maastricht University Maastricht, Maastricht University Medical Centre (MUMC), University of British Columbia (UBC), University of Calgary, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Filière Neuromusculaire (FILNEMUS), Virginia Commonwealth University (VCU), University Medical Center Groningen Groningen (UMCG), Seoul National University Seoul (SNU), Oxford University Hospitals NHS Trust, University of Oxford, Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg (FAU), University Medical Center Utrecht, University Hospitals Bristol, Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM), Helmholtz Zentrum München = German Research Center for Environmental Health, Mayo Clinic Rochester, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf Hamburg (UKE), Waseda University Tokyo, Japan, Université de Bourgogne (UB), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Department of Human Genetics Nijmegen

المصدر: ISSN: 2041-1723.

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, [SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Structural Biology [q-bio.BM]

العلاقة: hal-01922858; https://hal.sorbonne-universite.fr/hal-01922858Test; https://hal.sorbonne-universite.fr/hal-01922858/documentTest; https://hal.sorbonne-universite.fr/hal-01922858/file/s41467-018-06014-6.pdfTest

الإتاحة: https://doi.org/10.1038/s41467-018-06014-6Test
https://hal.sorbonne-universite.fr/hal-01922858Test
https://hal.sorbonne-universite.fr/hal-01922858/documentTest
https://hal.sorbonne-universite.fr/hal-01922858/file/s41467-018-06014-6.pdfTest

المؤلفون: Brimble, Elise, Lee-Messer, Christopher, Nagy, Peter L., Propst, Jennifer, Ruzhnikov, Maura R.Z.

المصدر: Molecular Syndromology ; volume 9, issue 6, page 295-299 ; ISSN 1661-8769 1661-8777

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1159/000492706Test
https://www.karger.com/Article/Pdf/492706Test

المؤلفون: Casey, Kathy, Fink, Regina, Krugman, Mary, Propst, Jennifer

المصدر: The Journal of Nursing Administration, 2004 Jun 01. 34(6), 303-311.

الوصول الحر: https://www.jstor.org/stable/26818137Test

المؤلفون: 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 TRM, Stegmann, Alexander PA, Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T, Cohen, Ana SA, Agbahovbe, Ruky, Innes, A Micheil, Au, PY 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, Andre, Bialer, Martin G, Moore, Christine, Koopmans, Marije, Brilstra, Eva H, Monroe, Glen R, van Gassen, Koen LI, 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, McRae, Jeremy F, Clayton, Stephen, Fitzgerald, Tomas W, Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M, Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D, King, Daniel, Krishnappa, Netravathi, Mason, Laura E, Singh, Tarjinder, Tivey, Adrian R, Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J, Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N, Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D'Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Kumar, VK Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A, Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J, McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Norman, Andrew, O'Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J, Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T, Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellaker, Chris, Parker, Michael, Firth, Helen V, Wright, Caroline F, FitzPatrick, David R, Barrett, Jeffrey C, Hurles, Matthew E

وصف الملف: text

العلاقة: http://livrepository.liverpool.ac.uk/3041041/1/Author%20Correction%3A%20CHD3%20helicase%20domain%20mutations%20cause%20a%20neurodevelopmental%20syndrome%20with%20macrocephaly%20and%20impaired%20speech%20and%20language.pdfTest; Collapse authors list. Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H, Nowak, Catherine B, Douglas, Jessica, Swoboda, Kathryn J et al (show 368 more authors) , Steeves, Marcie A, Sahai, Inderneel, Stumpel, Connie TRM, Stegmann, Alexander PA, Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T, Cohen, Ana SA, Agbahovbe, Ruky, Innes, A Micheil, Au, PY 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, Andre, Bialer, Martin G, Moore, Christine, Koopmans, Marije, Brilstra, Eva H, Monroe, Glen R, van Gassen, Koen LI, 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, McRae, Jeremy F, Clayton, Stephen, Fitzgerald, Tomas W, Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M, Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D, King, Daniel, Krishnappa, Netravathi, Mason, Laura E, Singh, Tarjinder, Tivey, Adrian R, Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J, Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N, Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D'Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn orcid:0000-0002-3141-7090 , Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Kumar, VK Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A, Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J, McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Norman, Andrew, O'Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J, Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T, Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellaker, Chris, Parker, Michael, Firth, Helen V, Wright, Caroline F, FitzPatrick, David R, Barrett, Jeffrey C and Hurles, Matthew E (2019) CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018). NATURE COMMUNICATIONS, 10 (1). 883-.

الإتاحة: https://doi.org/10.1038/s41467-019-08800-2Test
http://livrepository.liverpool.ac.uk/3041041Test/
http://livrepository.liverpool.ac.uk/3041041/1/Author%20Correction%3A%20CHD3%20helicase%20domain%20mutations%20cause%20a%20neurodevelopmental%20syndrome%20with%20macrocephaly%20and%20impaired%20speech%20and%20language.pdfTest

المؤلفون: Khallaf, Hamoud H. Al, Propst, Jennifer, Geffrard, Serge, Botha, Eleanor, Pervaiz, M. Ali

المصدر: JIMD Reports ; JIMD Reports – Case and Research Reports, 2012/6 ; page 133-137 ; ISSN 2192-8304 2192-8312 ; ISBN 9783642355172 9783642355189

الإتاحة: https://doi.org/10.1007/8904_2012_192Test

المؤلفون: Propst, Jennifer, Gambello, Michael J.

المصدر: Molecular Genetics and Metabolism ; volume 111, issue 2, page S87 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2013.12.211Test
https://api.elsevier.com/content/article/PII:S1096719213006434?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719213006434?httpAccept=text/plainTest

المؤلفون: Al Khallaf, Hamoud, Propst, Jennifer, Botha, Eleanor, Pervaiz, M. Ali

المصدر: Molecular Genetics and Metabolism ; volume 108, issue 2, page S18 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2012.11.018Test
https://api.elsevier.com/content/article/PII:S1096719212004477?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719212004477?httpAccept=text/plainTest