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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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    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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