نتائج البحث - Hunter, Matthew

Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch حسب Ibrahim, Masitah, Hunter, Matthew, Gugasyan, Lucy, Chan, Yuen, Malhotra, Atul, Sehgal, Arvind, Tan, Kenneth

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Climatic regulation of the neurotoxin domoic acid حسب McKibben, S. Morgaine, Peterson, William, Wood, A. Michelle, Trainer, Vera L., Hunter, Matthew, White, Angelicque E.

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Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction حسب Prawer, Yael, Hunter, Matthew, Cronin, Sara, Ling, Ling, Aliaga Vera, Solange, Fahey, Michael, Gelfand, Nikki, Oertel, Ralph, Bartlett, Essra, Francis, David, Godler, David

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Wilms tumor in patients with osteopathia striata with cranial sclerosis حسب Bach, Alicia, Mi, Jingyi, Hunter, Matthew, Halliday, Benjamin J., García-Miñaúr, Sixto, Sperotto, Francesca, Trevisson, Eva, Markie, David, Morison, Ian M., Shinawi, Marwan, Willis, Daniel N., Robertson, Stephen P.

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Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency حسب Watson, Leisa Rebecca, Slade, Charlotte A., Ojaimi, Samar, Barnes, Sara, Fedele, Pasquale, Smith, Prudence, Marum, Justine, Lunke, Sebastian, Stark, Zornitza, Hunter, Matthew F., Bryant, Vanessa L., Low, Michael Sze Yuan

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Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing حسب Akesson, Lauren S., Eggers, Stefanie, Love, Clare J., Chong, Belinda, Krzesinski, Emma I., Brown, Natasha J., Tan, Tiong Y., Richmond, Christopher M., Thorburn, David R., Christodoulou, John, Hunter, Matthew F., Lunke, Sebastian, Stark, Zornitza

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A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort حسب Downie, Lilian, Halliday, Jane L, Burt, Rachel A, Lunke, Sebastian, Lynch, Elly, Martyn, Melissa, Poulakis, Zeffie, Gaff, Clara, Sung, Valerie, Wake, Melissa, Hunter, Matthew, Saunders, Kerryn, Rose, Elizabeth, Rehm, Heidi L, Amor, David J

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A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33 حسب Traylor, Ryan N., Bruno, Damien L., Burgess, Trent, Wildin, Robert, Spencer, Anne, Ganesamoorthy, Devika, Amor, David J., Hunter, Matthew, Caplan, Michael, Rosenfeld, Jill A., Theisen, Aaron, Torchia, Beth S., Shaffer, Lisa G., Ballif, Blake C., Slater, Howard R.

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Exome sequencing in infants with congenital hearing impairment: a population-based cohort study حسب Downie, Lilian, Halliday, Jane, Burt, Rachel, Lunke, Sebastian, Lynch, Elly, Martyn, Melissa, Poulakis, Zeffie, Gaff, Clara, Sung, Valerie, Wake, Melissa, Hunter, Matthew F., Saunders, Kerryn, Rose, Elizabeth, Lewis, Sharon, Jarmolowicz, Anna, Phelan, Dean, Rehm, Heidi L., Amor, David J.

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Correction: Exome sequencing in infants with congenital hearing impairment: a population-based cohort study حسب Downie, Lilian, Halliday, Jane, Burt, Rachel, Lunke, Sebastian, Lynch, Elly, Martyn, Melissa, Poulakis, Zeffie, Gaff, Clara, Sung, Valerie, Wake, Melissa, Hunter, Matthew F., Saunders, Kerryn, Rose, Elizabeth, Lewis, Sharon, Jarmolowicz, Anna, Phelan, Dean, Rehm, Heidi L., Amor, David J.

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Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X حسب Arpone, Marta, Baker, Emma K., Bretherton, Lesley, Bui, Minh, Li, Xin, Whitaker, Simon, Dissanayake, Cheryl, Cohen, Jonathan, Hickerton, Chriselle, Rogers, Carolyn, Field, Mike, Elliott, Justine, Aliaga, Solange M., Ling, Ling, Francis, David, Hearps, Stephen J. C., Hunter, Matthew F., Amor, David J., Godler, David E.

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FMR1 mRNA from full mutation alleles is associated with ABC-C(FX) scores in males with fragile X syndrome حسب Baker, Emma K., Arpone, Marta, Kraan, Claudine, Bui, Minh, Rogers, Carolyn, Field, Michael, Bretherton, Lesley, Ling, Ling, Ure, Alexandra, Cohen, Jonathan, Hunter, Matthew F., Santa María, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica, Amor, David J., Godler, David E.

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Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review حسب Tan, Natalie B., Stapleton, Rachel, Stark, Zornitza, Delatycki, Martin B., Yeung, Alison, Hunter, Matthew F., Amor, David J., Brown, Natasha J., Stutterd, Chloe A., McGillivray, George, Yap, Patrick, Regan, Matthew, Chong, Belinda, Fanjul Fernandez, Miriam, Marum, Justine, Phelan, Dean, Pais, Lynn S., White, Susan M., Lunke, Sebastian, Tan, Tiong Y.

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Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome حسب Baker, Emma K., Arpone, Marta, Vera, Solange Aliaga, Bretherton, Lesley, Ure, Alexandra, Kraan, Claudine M., Bui, Minh, Ling, Ling, Francis, David, Hunter, Matthew F., Elliott, Justine, Rogers, Carolyn, Field, Michael J., Cohen, Jonathan, Maria, Lorena Santa, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M., Amor, David J., Godler, David E.

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Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features حسب Baker, Emma K., Arpone, Marta, Aliaga, Solange M., Bretherton, Lesley, Kraan, Claudine M., Bui, Minh, Slater, Howard R., Ling, Ling, Francis, David, Hunter, Matthew F., Elliott, Justine, Rogers, Carolyn, Field, Michael, Cohen, Jonathan, Cornish, Kim, Santa Maria, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M., Amor, David J., Godler, David E.

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Phenotypic insights into ADCY5‐associated disease حسب Chang, Florence C.F., Westenberger, Ana, Dale, Russell C., Smith, Martin, Pall, Hardev S., Perez‐Dueñas, Belen, Grattan‐Smith, Padraic, Ouvrier, Robert A., Mahant, Neil, Hanna, Bernadette C., Hunter, Matthew, Lawson, John A., Max, Christoph, Sachdev, Rani, Meyer, Esther, Crimmins, Dennis, Pryor, Donald, Morris, John G.L., Münchau, Alex, Grozeva, Detelina, Carss, Keren J., Raymond, Lucy, Kurian, Manju A., Klein, Christine, Fung, Victor S.C.

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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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Clinical impact of genomic testing in patients with suspected monogenic kidney disease حسب Jayasinghe, Kushani, Stark, Zornitza, Kerr, Peter G., Gaff, Clara, Martyn, Melissa, Whitlam, John, Creighton, Belinda, Donaldson, Elizabeth, Hunter, Matthew, Jarmolowicz, Anna, Johnstone, Lilian, Krzesinski, Emma, Lunke, Sebastian, Lynch, Elly, Nicholls, Kathleen, Patel, Chirag, Prawer, Yael, Ryan, Jessica, See, Emily J., Talbot, Andrew, Trainer, Alison, Tytherleigh, Rigan, Valente, Giulia, Wallis, Mathew, Wardrop, Louise, West, Kirsty H., White, Susan M., Wilkins, Ella, Mallett, Andrew J., Quinlan, Catherine

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THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability حسب Kumar, Raman, Corbett, Mark A., van Bon, Bregje W.M., Woenig, Joshua A., Weir, Lloyd, Douglas, Evelyn, Friend, Kathryn L., Gardner, Alison, Shaw, Marie, Jolly, Lachlan A., Tan, Chuan, Hunter, Matthew F., Hackett, Anna, Field, Michael, Palmer, Elizabeth E., Leffler, Melanie, Rogers, Carolyn, Boyle, Jackie, Bienek, Melanie, Jensen, Corinna, Van Buggenhout, Griet, Van Esch, Hilde, Hoffmann, Katrin, Raynaud, Martine, Zhao, Huiying, Reed, Robin, Hu, Hao, Haas, Stefan A., Haan, Eric, Kalscheuer, Vera M., Gecz, Jozef

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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants حسب Tatton-Brown, Katrina, Zachariou, Anna, Loveday, Chey, Renwick, Anthony, Mahamdallie, Shazia, Aksglaede, Lise, Baralle, Diana, Barge-Schaapveld, Daniela, Blyth, Moira, Bouma, Mieke, Breckpot, Jeroen, Crabb, Beau, Dabir, Tabib, Cormier-Daire, Valerie, Fauth, Christine, Fisher, Richard, Gener, Blanca, Goudie, David, Homfray, Tessa, Hunter, Matthew, Jorgensen, Agnete, Kant, Sarina G., Kirally-Borri, Cathy, Koolen, David, Kumar, Ajith, Labilloy, Anatalia, Lees, Melissa, Marcelis, Carlo, Mercer, Catherine, Mignot, Cyril, Miller, Kathryn, Neas, Katherine, Newbury-Ecob, Ruth, Pilz, Daniela T., Posmyk, Renata, Prada, Carlos, Ramsey, Keri, Randolph, Linda M., Selicorni, Angelo, Shears, Deborah, Suri, Mohnish, Temple, I. Karen, Turnpenny, Peter, Van Maldergem, Lionel, Varghese, Vinod, Veenstra-Knol, Hermine E., Yachelevich, Naomi, Yates, Laura, Rahman, Nazneen

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