Arama Sonuçları - Kirk, Edwin P.

Embryo selection for complex traits is impracticable Yazar: Kirk, Edwin P

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Classification of stillbirth: Classification is not explanation Yazar: Kirk, Edwin P

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‘Nasal' speech–hyper or hypo? Yazar: Kirk, Edwin P

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The fog of expectation Yazar: Kirk, Edwin P

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Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature Yazar: Pinner, Jason R, Freckmann, Mary-Louise, Kirk, Edwin P, Yoshino, Makoto

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Case report of a child bearing a novel deleterious splicing variant in PIGT Yazar: Mason, Samantha, Castilla-Vallmanya, Laura, James, Con, Andrews, P. Ian, Balcells, Susana, Grinberg, Daniel, Kirk, Edwin P., Urreizti, Roser

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Clinical utility gene card for: Cantú syndrome Yazar: Kirk, Edwin P, Scurr, Ingrid, van Haaften, Gijs, van Haelst, Mieke M, Nichols, Colin G, Williams, Maggie, Smithson, Sarah F, Grange, Dorothy K

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Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex Yazar: O’Neill, Adam C., Kyrousi, Christina, Einsiedler, Melanie, Burtscher, Ingo, Drukker, Micha, Markie, David M., Kirk, Edwin P., Götz, Magdalena, Robertson, Stephen P., Cappello, Silvia

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Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant Yazar: Yuen, Michaela, Worgan, Lisa, Iwanski, Jessika, Pappas, Christopher T., Joshi, Himanshu, Churko, Jared M., Arbuckle, Susan, Kirk, Edwin P., Zhu, Ying, Roscioli, Tony, Gregorio, Carol C., Cooper, Sandra T.

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Paediatric genomic testing: Navigating genomic reports for the general paediatrician Yazar: Shah, Margit, Selvanathan, Arthavan, Baynam, Gareth, Berman, Yemima, Boughtwood, Tiffany, Freckmann, Mary‐Louise, Parasivam, Gayathri, White, Susan M, Grainger, Natalie, Kirk, Edwin P, Ma, Alan SL, Sachdev, Rani

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Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations Yazar: Granados-Riveron, Javier T, Pope, Mark, Bu'Lock, Frances A, Thornborough, Christopher, Eason, Jacqueline, Setchfield, Kerry, Ketley, Ami, Kirk, Edwin P, Fatkin, Diane, Feneley, Michael P, Harvey, Richard P, Brook, J David

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NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency Yazar: Kirby, Denise M., Salemi, Renato, Sugiana, Canny, Ohtake, Akira, Parry, Lee, Bell, Katrina M., Kirk, Edwin P., Boneh, Avihu, Taylor, Robert W., Dahl, Hans-Henrik M., Ryan, Michael T., Thorburn, David R.

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Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience Yazar: Ma, Alan, Gurnasinghani, Sunita, Kirk, Edwin P., McClenaghan, Conor, Singh, Gautam K., Grange, Dorothy K., Pandit, Chetan, Zhu, Yung, Roscioli, Tony, Elakis, George, Buckley, Michael, Mehta, Bhavesh, Roberts, Philip, Mervis, Jonathan, Biggin, Andrew, Nichols, Colin G.

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Investigation of Association between PFO Complicated by Cryptogenic Stroke and a Common Variant of the Cardiac Transcription Factor GATA4 Yazar: Moradi Marjaneh, Mahdi, Kirk, Edwin P., Posch, Maximilian G., Ozcelik, Cemil, Berger, Felix, Hetzer, Roland, Otway, Robyn, Butler, Tanya L., Blue, Gillian M., Griffiths, Lyn R., Fatkin, Diane, Martinson, Jeremy J., Winlaw, David S., Feneley, Michael P., Harvey, Richard P.

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Pierpont Syndrome: A Collaborative Study Yazar: Wright, Emma MM Burkitt, Suri, Mohnish, White, Susan M, de Leeuw, Nicole, Silfhout, Anneke T Vulto-van, Stewart, Fiona, McKee, Shane, Mansour, Sahar, Connell, Fiona C, Chopra, Maya, Kirk, Edwin P, Devriendt, Koen, Reardon, Willie, Brunner, Han, Donnai, Dian

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A de novo mutation in the Sodium-Activated Potassium channel KCNT2 alters ion selectivity and causes epileptic encephalopathy Yazar: Gururaj, Sushmitha, Palmer, Elizabeth Emma, Sheehan, Garrett D, Kandula, Tejaswi, Macintosh, Rebecca, Ying, Kevin, Morris, Paula, Tao, Jiang, Dias, Kerith-Rae, Zhu, Ying, Dinger, Marcel E., Cowley, Mark J., Kirk, Edwin P, Roscioli, Tony, Sachdev, Rani, Duffey, Michael E, Bye, Ann, Bhattacharjee, Arin

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Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes Yazar: Lim, Sze Chern, Friemel, Martin, Marum, Justine E., Tucker, Elena J., Bruno, Damien L., Riley, Lisa G., Christodoulou, John, Kirk, Edwin P., Boneh, Avihu, DeGennaro, Christine M., Springer, Michael, Mootha, Vamsi K., Rouault, Tracey A., Leimkühler, Silke, Thorburn, David R., Compton, Alison G.

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Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia Yazar: 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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Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry Yazar: Grange, Dorothy K., Roessler, Helen I., McClenaghan, Conor, Duran, Karen, Shields, Kathleen, Remedi, Maria S., Knoers, Nine V. A. M., Lee, Jin-Moo, Kirk, Edwin P., Scurr, Ingrid, Smithson, Sarah F., Singh, Gautam K., van Haelst, Mieke M., Nichols, Colin G., van Haaften, Gijs

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Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome Yazar: Lynch, Danielle C., Revil, Timothée, Schwartzentruber, Jeremy, Bhoj, Elizabeth J., Innes, A. Micheil, Lamont, Ryan E., Lemire, Edmond G., Chodirker, Bernard N., Taylor, Juliet P., Zackai, Elaine H., McLeod, D. Ross, Kirk, Edwin P., Hoover-Fong, Julie, Fleming, Leah, Savarirayan, Ravi, Majewski, Jacek, Jerome-Majewska, Loydie A., Parboosingh, Jillian S., Bernier, Francois P.

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