نتائج البحث - Newbury‐Ecob, Ruth

New macular findings in individuals with biallelic KLHL7 gene mutation حسب Heng, Ling Zhi, Kennedy, Joanna, Smithson, Sarah, Newbury-Ecob, Ruth, Churchill, Amanda

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SET de novo frameshift variants associated with developmental delay and intellectual disabilities حسب Richardson, Ruth, Splitt, Miranda, Newbury-Ecob, Ruth, Hulbert, Alice, Kennedy, Joanna, Weber, Astrid

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Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays حسب Sellick, Gabrielle S., Longman, Cheryl, Tolmie, John, Newbury-Ecob, Ruth, Geenhalgh, Lynn, Hughes, Simon, Whiteford, Margo, Garrett, Christine, Houlston, Richard S.

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Tbx5 Buffers Inherent Left/Right Asymmetry Ensuring Symmetric Forelimb Formation حسب Sulaiman, Fatima A., Nishimoto, Satoko, Murphy, George R. F., Kucharska, Anna, Butterfield, Natalie C., Newbury-Ecob, Ruth, Logan, Malcolm P. O.

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Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease حسب Weedon, Michael N., Hastings, Robert, Caswell, Richard, Xie, Weijia, Paszkiewicz, Konrad, Antoniadi, Thalia, Williams, Maggie, King, Cath, Greenhalgh, Lynn, Newbury-Ecob, Ruth, Ellard, Sian

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Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance حسب Mansour, Sahar, Swinkels, Marielle, Terhal, Paulien A, Wilson, Louise C, Rich, Philip, Van Maldergem, Lionel, Zwijnenburg, Petra JG, Hall, Christine M, Robertson, Stephen P, Newbury-Ecob, Ruth

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Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene حسب Hong, Ying, Keylock, Annette, Jensen, Barbara, Jacques, Thomas S., Ogunbiyi, Olumide, Omoyinmi, Ebun, Saunders, Dawn, Mallick, Andrew A., Tooley, Madeleine, Newbury-Ecob, Ruth, Rankin, Julia, Williams, Hywel J., Ganesan, Vijeya, Brogan, Paul A., Eleftheriou, Despina

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Neutropenia in Barth syndrome: characteristics, risks and management حسب Steward, Colin G., Groves, Sarah J., Taylor, Carolyn T., Maisenbacher, Melissa K., Versluys, Birgitta, Newbury-Ecob, Ruth A., Ozsahin, Hulya, Damin, Michaela K., Bowen, Valerie M., McCurdy, Katherine R., Mackey, Michael C., Bolyard, Audrey A., Dale, David C.

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Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome حسب Klopocki, Eva , Schulze, Harald , Strauß, Gabriele , Ott, Claus-Eric , Hall, Judith , Trotier, Fabienne , Fleischhauer, Silke , Greenhalgh, Lynn , Newbury-Ecob, Ruth A. , Neumann, Luitgard M. , Habenicht, Rolf , König, Rainer , Seemanova, Eva , Megarbane, André , Ropers, Hans-Hilger , Ullmann, Reinhard , Horn, Denise , Mundlos, Stefan 

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SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect حسب McNeill, Alisdair, Iovino, Emanuela, Mansard, Luke, Vache, Christel, Baux, David, Bedoukian, Emma, Cox, Helen, Dean, John, Goudie, David, Kumar, Ajith, Newbury-Ecob, Ruth, Fallerini, Chiara, Renieri, Alessandra, Lopergolo, Diego, Mari, Francesca, Blanchet, Catherine, Willems, Marjolaine, Roux, Anne-Francoise, Pippucci, Tommaso, Delpire, Eric

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Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia حسب Hall, Hildegard Nikki, Parry, David, Halachev, Mihail, Williamson, Kathleen A, Donnelly, Kevin, Parada, Jose Campos, Bhatia, Shipra, Joseph, Jeffrey, Holden, Simon, Prescott, Trine E, Bitoun, Pierre, Kirk, Edwin P, Newbury-Ecob, Ruth, Lachlan, Katherine, Bernar, Juan, van Heyningen, Veronica, FitzPatrick, David R, Meynert, Alison

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Barth syndrome حسب Clarke, Sarah LN, Bowron, Ann, Gonzalez, Iris L, Groves, Sarah J, Newbury-Ecob, Ruth, Clayton, Nicol, Martin, Robin P, Tsai-Goodman, Beverly, Garratt, Vanessa, Ashworth, Michael, Bowen, Valerie M, McCurdy, Katherine R, Damin, Michaela K, Spencer, Carolyn T, Toth, Matthew J, Kelley, Richard I, Steward, Colin G

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Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism حسب Van Esch, Hilde, Colnaghi, Rita, Freson, Kathleen, Starokadomskyy, Petro, Zankl, Andreas, Backx, Liesbeth, Abramowicz, Iga, Outwin, Emily, Rohena, Luis, Faulkner, Claire, Leong, Gary M., Newbury-Ecob, Ruth A., Challis, Rachel C., Õunap, Katrin, Jaeken, Jacques, Seuntjens, Eve, Devriendt, Koen, Burstein, Ezra, Low, Karen J., O’Driscoll, Mark

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Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis حسب Hastings, Rob, Cobben, Jan-Maarten, Gillessen-Kaesbach, Gabriele, Goodship, Judith, Hove, Hanne, Kjaergaard, Susanne, Kemp, Helena, Kingston, Helen, Lunt, Peter, Mansour, Sahar, McGowan, Ruth, Metcalfe, Kay, Murdoch-Davis, Catherine, Ray, Mary, Rio, Marlène, Smithson, Sarah, Tolmie, John, Turnpenny, Peter, van Bon, Bregje, Wieczorek, Dagmar, Newbury-Ecob, Ruth

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Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity حسب Jalali, Ali, Aldinger, Kimberly A., Chary, Ajit, Mclone, David G., Bowman, Robin M., Le, Luan Cong, Jardine, Phillip, Newbury-Ecob, Ruth, Mallick, Andrew, Jafari, Nadereh, Russell, Eric J., Curran, John, Nguyen, Pam, Ouahchi, Karim, Lee, Charles, Dobyns, William B., Millen, Kathleen J., Pina-Neto, Joao M., Kessler, John A., Bassuk, Alexander G.

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Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability حسب Hamilton, Mark J, Caswell, Richard C, Canham, Natalie, Cole, Trevor, Firth, Helen V, Foulds, Nicola, Heimdal, Ketil, Hobson, Emma, Houge, Gunnar, Joss, Shelagh, Kumar, Dhavendra, Lampe, Anne Katrin, Maystadt, Isabelle, McKay, Victoria, Metcalfe, Kay, Newbury-Ecob, Ruth, Park, Soo-Mi, Robert, Leema, Rustad, Cecilie F, Wakeling, Emma, Wilkie, Andrew O M, Study, The Deciphering Developmental Disorders, Twigg, Stephen R F, Suri, Mohnish

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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome حسب Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen

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Clinical and genetic aspects of KBG syndrome حسب 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

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Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging حسب Jeffries, Aaron R., Maroofian, Reza, Salter, Claire G., Chioza, Barry A., Cross, Harold E., Patton, Michael A., Dempster, Emma, Temple, I. Karen, Mackay, Deborah J.G., Rezwan, Faisal I., Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Hunter, Matthew F., Kamath, Arveen, Kumar, Ajith, Newbury-Ecob, Ruth, Selicorni, Angelo, Springer, Amanda, Van Maldergem, Lionel, Varghese, Vinod, Yachelevich, Naomi, Tatton-Brown, Katrina, Mill, Jonathan, Crosby, Andrew H., Baple, Emma L.

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p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation حسب van Bokhoven, Hans, Hamel, Ben C. J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H. G., Vanmolkot, Kaate R. J., van Beusekom, Ellen, van Beersum, Sylvia E. C., Celli, Jacopo, Merkx, Gerard F. M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, Hülya, Yates, John R. W., Neri, Giovanni, Brunner, Han G.

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