Risultati della ricerca - Smith, Nicholas J

Reply to Zhang et al. di Stephens, Matthew, Smith, Nicholas J., Donnelly, Peter

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A New Statistical Method for Haplotype Reconstruction from Population Data di Stephens, Matthew, Smith, Nicholas J., Donnelly, Peter

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Development of highly inhomogeneous temperature profile within electrically heated alkali silicate glasses di McLaren, Charles T., Kopatz, Craig, Smith, Nicholas J., Jain, Himanshu

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The human urothelial tight junction: claudin 3 and the ZO-1α(+) switch di Smith, Nicholas J, Hinley, Jennifer, Varley, Claire L, Eardley, Ian, Trejdosiewicz, Ludwik K, Southgate, Jennifer

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A Comparison of Dietary and Caloric Restriction Models on Body Composition, Physical Performance, and Metabolic Health in Young Mice di Smith, Nicholas J. G., Caldwell, Jade L., van der Merwe, Marie, Sharma, Sunita, Butawan, Matthew, Puppa, Melissa, Bloomer, Richard J.

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Time of Feeding Alters Obesity-Associated Parameters and Gut Bacterial Communities, but Not Fungal Populations, in C57BL/6 Male Mice di van der Merwe, Marie, Sharma, Sunita, Caldwell, Jade L, Smith, Nicholas J, Gomes, Charles K, Bloomer, Richard J, Buddington, Randal K, Pierre, Joseph F

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Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder di Kumar, Raman, Corbett, Mark A., Smith, Nicholas J. C., Hock, Daniella H., Kikhtyak, Zoya, Semcesen, Liana N., Morimoto, Atsushi, Lee, Sangmoon, Stroud, David A., Gleeson, Joseph G., Haan, Eric A., Gecz, Jozef

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Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6 di Byrne, Alicia B., Arts, Peer, Polyak, Steven W., Feng, Jinghua, Schreiber, Andreas W., Kassahn, Karin S., Hahn, Christopher N., Mordaunt, Dylan A., Fletcher, Janice M., Lipsett, Jillian, Bratkovic, Drago, Booker, Grant W., Smith, Nicholas J., Scott, Hamish S.

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Collagen VI Glycine Mutations: Perturbed Assembly and a Spectrum of Clinical Severity di Pace, Rishika A., Peat, Rachel A., Baker, Naomi L., Zamurs, Laura, Mörgelin, Matthias, Irving, Melita, Adams, Naomi E., Bateman, John F., Mowat, David, Smith, Nicholas J. C., Lamont, Phillipa J., Moore, Steven A., Mathews, Katherine D., North, Kathryn N., Lamandé, Shireen R.

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Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations di Sue, Carolyn M., Balasubramaniam, Shanti, Bratkovic, Drago, Bonifant, Catherine, Christodoulou, John, Coman, David, Crawley, Karen, Edema‐Hildebrand, Fabienne, Ellaway, Carolyn, Ghaoui, Roula, Kava, Maina, Kearns, Lisa S., Lee, Joy, Liang, Christina, Mackey, David A., Murray, Sean, Needham, Merrilee, Rius, Rocio, Russell, Jacqui, Smith, Nicholas J.C., Thyagarajan, Dominic, Wools, Christine

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Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy di Eichler, Florian, Duncan, Christine, Musolino, Patricia L., Orchard, Paul J., De Oliveira, Satiro, Thrasher, Adrian J., Armant, Myriam, Dansereau, Colleen, Lund, Troy C., Miller, Weston P., Raymond, Gerald V., Sankar, Raman, Shah, Ami J., Sevin, Caroline, Gaspar, H. Bobby, Gissen, Paul, Amartino, Hernan, Bratkovic, Drago, Smith, Nicholas J.C., Paker, Asif M., Shamir, Esther, O’Meara, Tara, Davidson, David, Aubourg, Patrick, Williams, David A.

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Mutations in KCNT1 cause a spectrum of focal epilepsies di Møller, Rikke S., Heron, Sarah E., Larsen, Line H. G., Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., van Kempen, Marjan J. A., Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh-Olsen, Bente, Dibbens, Leanne M.

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