Rezultati - Kivuva, Emma

An exome sequencing strategy to diagnose lethal autosomal recessive disorders od Ellard, Sian, Kivuva, Emma, Turnpenny, Peter, Stals, Karen, Johnson, Matthew, Xie, Weijia, Caswell, Richard, Lango Allen, Hana

Polni tekst Polni tekst Polni tekst

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci od Turner, Claire Louise Susan, Mackay, Deborah M, Callaway, Jonathan L A, Docherty, Louise E, Poole, Rebecca L, Bullman, Hilary, Lever, Margaret, Castle, Bruce M, Kivuva, Emma C, Turnpenny, Peter D, Mehta, Sarju G, Mansour, Sahar, Wakeling, Emma L, Mathew, Verghese, Madden, Jackie, Davies, Justin H, Temple, I Karen

Polni tekst Polni tekst Polni tekst

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans od Docherty, Louise E., Rezwan, Faisal I., Poole, Rebecca L., Turner, Claire L. S., Kivuva, Emma, Maher, Eamonn R., Smithson, Sarah F., Hamilton-Shield, Julian P., Patalan, Michal, Gizewska, Maria, Peregud-Pogorzelski, Jaroslaw, Beygo, Jasmin, Buiting, Karin, Horsthemke, Bernhard, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas, Baple, Emma, Mansour, Sahar, Temple, I. Karen, Mackay, Deborah J. G.

Polni tekst Polni tekst Polni tekst

Clinical and genetic aspects of KBG syndrome od Low, Karen, Ashraf, Tazeen, Canham, Natalie, Clayton‐Smith, Jill, Deshpande, Charu, Donaldson, Alan, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fryer, Alan, Gibson, Kate, Hayes, Ian, Hills, Alison, Holder, Susan, Irving, Melita, Joss, Shelagh, Kivuva, Emma, Lachlan, Kathryn, Magee, Alex, McConnell, Vivienne, McEntagart, Meriel, Metcalfe, Kay, Montgomery, Tara, Newbury‐Ecob, Ruth, Stewart, Fiona, Turnpenny, Peter, Vogt, Julie, Fitzpatrick, David, Williams, Maggie, Smithson, Sarah

Polni tekst Polni tekst Polni tekst

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients od Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S., Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I., Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G., Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O. M., Wilson, Louise, Yuen, Amy, Study, DDD, Low, Karen J., Newbury-Ecob, Ruth A.

Polni tekst Polni tekst Polni tekst

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing od Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., Ellard, Sian

Polni tekst Polni tekst Polni tekst

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations od Palmer, Elizabeth E., Kumar, Raman, Gordon, Christopher T., Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Minoche, Andre E., Cowley, Mark J., Risen, Sarah, Powell-Hamilton, Nina N., Tusi, Jessica E., Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Field, Michael, Gecz, Jozef

Polni tekst Polni tekst Polni tekst

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction od Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frédéric, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna K., Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju G., Chung, Wendy K., Devriendt, Koenraad, Holder, Susan E., Jewett, Tamison, Baldwin, Lauren M., Wilson, William G., Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah F., Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer A., Shashi, Vandana, Koudijs, Suzanne M., Heijligers, Malou, Kivuva, Emma, McTague, Amy, Male, Alison, van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie L., Houge, Gunnar, Janssens, Veerle

Polni tekst Polni tekst Polni tekst