Výsledky vyhledávání - Hunter, Matthew

Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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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