Torthaí cuardaigh - Kinning, Esther

An Unbalanced Rearrangement of Chromosomes 4:20 is Associated with Childhood Osteoporosis and Reduced Caspase-3 Levels de réir Kinning, Esther, McMillan, Martin, Shepherd, Sheila, Helfrich, Miep, Hof, Rob vant, Adams, Christopher, Read, Heather, Wall, Daniel M., Ahmed, S. Faisal

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Proteomic Evidence of Biological Aging in a Child with a Compound Heterozygous ZMPSTE24 Mutation de réir Lucas‐Herald, Angela K, Zürbig, Petra, Mason, Avril, Kinning, Esther, Brown, Catriona E, Mansoorian, Bahareh, Mullen, William, Ahmed, Syed Faisal, Delles, Christian

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Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity de réir Karolak, Justyna A., Szafranski, Przemyslaw, Kilner, David, Patel, Chirag, Scurry, Bonnie, Kinning, Esther, Chandler, Kate, Jhangiani, Shalini N., Akdemir, Zeynep H. Coban, Lupski, James R., Popek, Edwina, Stankiewicz, Paweł

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Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals de réir Kharbanda, Mira, Pilz, Daniela T, Tomkins, Susan, Chandler, Kate, Saggar, Anand, Fryer, Alan, McKay, Victoria, Louro, Pedro, Smith, Jill Clayton, Burn, John, Kini, Usha, De Burca, Anna, FitzPatrick, David R, Kinning, Esther

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Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish de réir Southgate, Laura, Dafou, Dimitra, Hoyle, Jacqueline, Li, Nan, Kinning, Esther, Critchley, Peter, Németh, Andrea H., Talbot, Kevin, Bindu, Parayil S., Sinha, Sanjib, Taly, Arun B., Raghavendra, Seetharam, Müller, Ferenc, Maher, Eamonn R., Trembath, Richard C.

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Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis de réir Michot, Caroline, Le Goff, Carine, Goldenberg, Alice, Abhyankar, Avinash, Klein, Céline, Kinning, Esther, Guerrot, Anne-Marie, Flahaut, Philippe, Duncombe, Alice, Baujat, Genevieve, Lyonnet, Stanislas, Thalassinos, Caroline, Nitschke, Patrick, Casanova, Jean-Laurent, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie

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Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia de réir Michot, Caroline, Le Goff, Carine, Blair, Edward, Blanchet, Patricia, Capri, Yline, Gilbert-Dussardier, Brigitte, Goldenberg, Alice, Henderson, Alex, Isidor, Bertrand, Kayserili, Hulya, Kinning, Esther, Le Merrer, Martine, Lyonnet, Stanislas, Odent, Sylvie, Simsek-Kiper, Pelin Ozlem, Quelin, Chloé, Savarirayan, Ravi, Simon, Marleen, Splitt, Miranda, Verhagen, Judith M.A., Verloes, Alain, Munnich, Arnold, Baujat, Geneviève, Cormier-Daire, Valérie

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Pathogenicity and selective constraint on variation near splice sites de réir Lord, Jenny, Gallone, Giuseppe, Short, Patrick J., McRae, Jeremy F., Ironfield, Holly, Wynn, Elizabeth H., Gerety, Sebastian S., He, Liu, Kerr, Bronwyn, Johnson, Diana S., McCann, Emma, Kinning, Esther, Flinter, Frances, Temple, I. Karen, Clayton-Smith, Jill, McEntagart, Meriel, Lynch, Sally Ann, Joss, Shelagh, Douzgou, Sofia, Dabir, Tabib, Clowes, Virginia, McConnell, Vivienne P.M., Lam, Wayne, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Barrett, Jeffrey C., Hurles, Matthew E.

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Phenotype Delineation of ZNF462 related syndrome de réir Kruszka, Paul, Hu, Tommy, Hong, Sungkook, Signer, Rebecca, Cogné, Benjamin, Isidor, Betrand, Mazzola, Sarah E., Giltay, Jacques C., van Gassen, Koen L.I., England, Eleina M., Pais, Lynn, Ockeloen, Charlotte W., Sanchez-Lara, Pedro A., Kinning, Esther, Adams, Darius J, Treat, Kayla, Torres-Martinez, Wilfredo, Bedeschi, Maria Francesca, Iascone, Maria, Blaney, Stephanie, Bell, Oliver, Tan, Tiong Y., Delrue, Marie-Ange, Jurgens, Julie, Barry, Brenda J., Engle, Elizabeth C., Savage, Sarah K., Fleischer, Nicole, Martinez-Agosto, Julian A., Boycott, Kym, Zackai, Elaine H., Muenke, Maximilian

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WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features de réir Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A.

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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism de réir Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Şahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton–Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, FitzPatrick, David R

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