Treffer 1 - 20 von 68 für Suche 'Weber, K Derek', Suchdauer: 1,26s Treffer weiter einschränken
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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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    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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    Protocol for a systematic review of the diagnostic test accuracy of tests for IgE‐mediated food allergy von Genuneit, Jon, Jayasinghe, Sashini, Riggioni, Carmen, Peters, Rachel Louise, Chu, Derek K., Munblit, Daniel, Boyle, Robert J., Du Toit, George, Skypala, Isabel, Santos, Alexandra F., Kalayci, Ömer, Akdis, Cezmi A, Alvarez‐Perea, Alberto, Lozano, Montserrat Alvaro, Asero, Riccardo, Ballmer‐Weber, Barbara, Barber, Domingo, Barni, Simona, Pajno, Giovanni Battista, Beyer, Kirsten, Bindslev‐Jensen, Carsten, Brough, Helen, Buyuktiryaki, Betul, de Oliveira, Lucila Camargo Lopes, Cianferoni, Antonella, Chinthrajah, R Sharon, Parker, Sean N, Giacco, Stefano Del, DunnGalvin, Audrey, Eberlein, Bernadette, Ebisawa, Motohiro, Eigenmann, Philippe, Eiwegger, Thomas, Faber, Margaretha, Fernandez‐Rivas, Montserrat, Feeney, Mary, Fisher, Helen, Giovannini, Mattia, Halken, Susanne, Hoffmann‐Sommergruber, Karin, Jaumdally, Hannah, Jones, Christina J, Knibb, Rebecca, Knol, Edward, Konstantinou, George N, Krawiec, Marta, Lau, Susanne, Mayorga, Lina, Marques‐Mejias, M. Andreina, Meyer, Rosan, Moya, Beatriz, Mortz, Charlotte G, Muraro, Antonella, Nadeau, Kari, Parker, N, Nilsson, Caroline, O’Mahony, Liam, Papadopoulos, Nikolaos G, Perrett, Kirsten, Piletta‐Zanin, Alexandre, Podestà, Marcia, Poulsen, Lars K, Ricci, Cristian, Roberts, Graham, Sampson, Hugh, Smolińska, Sylwia, Schwarze, Jürgen, Untersmayr, Eva, Ree, Ronald Van, Venter, Carina, Vickery, Brian P, Vlieg‐Boerstra, Berber


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