檢索結果 - Alison Colley

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  1. 1
    Gene Localization for an Autosomal Dominant Familial Periodic Fever to 12p13

    Gene Localization for an Autosomal Dominant Familial Periodic Fever to 12p13 由 John C. Mulley, Kathrin Saar, Gerry Hewitt, Franz Rüschendorf, Hilary A. Phillips, Alison Colley, David Sillence, André Reis, Meredith Wilson

    出版 1998
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  2. 2
    Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

    Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy 由 Richard D. Bagnall, Jodie Ingles, Marcel E. Dinger, Mark J. Cowley, Samantha Barratt Ross, André E. Minoche, Sean Lal, Christian Turner, Alison Colley, Sulekha Rajagopalan, Yemima Berman, Anne Ronan, Diane Fatkin, Christopher Semsarian

    出版 2018
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  3. 3
    Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

    Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders 由 Lisa Ewans, Deborah Schofield, Rupendra Shrestha, Ying Zhu, Velimir Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee, Edwin P. Kirk, Alison Colley, Carolyn Ellaway, Anne Turner, David Mowat, Lisa Worgan, Mary‐Louise Freckmann, Michelle Lipke, Rani Sachdev, David T. Miller, Michael Field, Marcel E. Dinger, Michael F. Buckley, Mark J. Cowley, Tony Roscioli

    出版 2018
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    Artigo
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  4. 4
    Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

    Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics 由 Gianina Ravenscroft, Joshua S. Clayton, Fathimath Faiz, Padma Sivadorai, Di Milnes, Rob Cincotta, Phillip Moon, Ben Kamien, Matthew Edwards, Martin B. Delatycki, Phillipa J. Lamont, H.S. Chan, Alison Colley, Alan Ma, Felicity Collins, Lucinda Hennington, Teresa Zhao, George McGillivray, Sondhya Ghedia, Katherine R. Chao, Anne O’Donnell‐Luria, Nigel G. Laing, Mark R. Davis

    出版 2020
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  5. 5
    Novel (ovario) leukodystrophy related to <i>AARS2</i> mutations

    Novel (ovario) leukodystrophy related to <i>AARS2</i> mutations 由 Cristina Dallabona, Daria Diodato, Sietske H. Kevelam, Tobias B. Haack, Lee-Jun Wong, Gajja S. Salomons, Enrico Baruffini, Laura Melchionda, Caterina Mariotti, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Colin A. Chapman, Alison Colley, Helena Rocha, Katrin Õunap, Raphael Schiffmann, Ettore Salsano, M. Savoiardo, Eline M. Hamilton, Truus E. M. Abbink, Nicole I. Wolf, Ileana Ferrero, Costanza Lamperti, Massimo Zeviani, Adeline Vanderver, Daniele Ghezzi, Marjo S. van der Knaap

    出版 2014
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  6. 6
    Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

    Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth 由 Emily J. Todd, Kyle S. Yau, Royston Ong, Jennie Slee, George McGillivray, Christopher Barnett, Göknur Haliloğlu, Beril Talim, Zühal Akçören, Ariana Kariminejad, Anita Cairns, Nigel F. Clarke, Mary‐Louise Freckmann, Norma B. Romero, Denise Williams, Caroline A. Sewry, Alison Colley, Monique M. Ryan, Cathy Kiraly‐Borri, Padma Sivadorai, Richard J. N. Allcock, David Beeson, Susan Maxwell, Mark R. Davis, Nigel G. Laing, Gianina Ravenscroft

    出版 2015
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  7. 7
    Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

    Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”) 由 Edwin P. Kirk, Royston Ong, Kirsten Boggs, Tristan Hardy, Sarah Righetti, Ben Kamien, Tony Roscioli, David J. Amor, Madhura Bakshi, Clara W. T. Chung, Alison Colley, Robyn V. Jamieson, Jan Liebelt, Alan Ma, Nicholas Pachter, Sulekha Rajagopalan, Anja Ravine, Meredith Wilson, Jade Caruana, Rachael Casella, Mark R. Davis, Samantha Edwards, Alison D. Archibald, Julie McGaughran, Ainsley J. Newson, Nigel G. Laing, Martin B. Delatycki

    出版 2020
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  8. 8
    NAD Deficiency, Congenital Malformations, and Niacin Supplementation

    NAD Deficiency, Congenital Malformations, and Niacin Supplementation 由 Hongjun Shi, Annabelle Enriquez, Melissa Rapadas, Ella MMA Martin, Roni Wang, Julie Moreau, Chai K. Lim, Justin O. Szot, Eddie Ip, James N. Hughes, Kotaro Sugimoto, David T. Humphreys, Aideen M. McInerney‐Leo, Paul Leo, Ghassan J. Maghzal, Jake Halliday, Janine Smith, Alison Colley, Paul R. Mark, Felicity Collins, David Sillence, David S. Winlaw, Joshua W. K. Ho, Gilles J. Guillemin, Matthew A. Brown, Kazu Kikuchi, Paul Q. Thomas, Roland Stocker, Eleni Giannoulatou, Gavin Chapman, Emma L. Duncan, Duncan B. Sparrow, Sally L. Dunwoodie

    出版 2017
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  9. 9
    Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

    Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis 由 Lisa Ewans, André E. Minoche, Deborah Schofield, Rupendra Shrestha, Clare Puttick, Ying Zhu, Alexander P. Drew, Velimir Gayevskiy, George Elakis, Corrina Walsh, Lesley C. Adès, Alison Colley, Carolyn Ellaway, Carey‐Anne Evans, Mary‐Louise Freckmann, Linda Goodwin, Anna Hackett, Benjamin Kamien, Edwin P. Kirk, Michelle Lipke, David Mowat, Elizabeth E. Palmer, Sulekha Rajagopalan, Anne Ronan, Rani Sachdev, William Stevenson, Anne Turner, Meredith Wilson, Lisa Worgan, Marie‐Christine Morel‐Kopp, Michael Field, Michael F. Buckley, Mark J. Cowley, Marcel E. Dinger, Tony Roscioli

    出版 2022
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  10. 10
    Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia

    Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia 由 Gerald F. Watts, David Sullivan, David L. Hare, Karam Kostner, Ari Horton, Damon A. Bell, Tom Brett, Ronald J. Trent, Nicola Poplawski, Andrew C. Martin, Shubha Srinivasan, Robert Justo, Clara K Chow, Jing Pang, Zanfina Ademi, Justin J. Ardill, Wendy Barnett, Timothy R. Bates, Lawrence J. Beilin, Warrick Bishop, J. Andrew Black, Peter Brett, Alex Brown, John R. Burnett, Christina A. Bursill, Alison Colley, Peter Clifton, Elif I. Ekinci, Luke Elias, Gemma A. Figtree, Brett H Forge, Jacquie Garton‐Smith, Dorothy Graham, Ian Hamilton‐Craig, Christian Hamilton‐Craig, Clare Heal, Charlotte Hespe, Amanda J. Hooper, L. G. Howes, Jodie Ingles, John J. Irvin, Edward Janus, Nadarajah Kangaharan, Anthony Keech, Andrew B. Kirke, Leonard Kritharides, Campbell Kyle, Paul Lacaze, Kirsten Lambert, Stephen C.H. Li, Wynand Malan, Stjepana Maticevic, Brendan McQuillan, S. Mirzaee, Trevor A. Mori, Allison Morton, David Colquhoun, Joanna C. Moullin, Paul J. Nestel, Kristen L. Nowak, Richard O’Brien, Nicholas Pachter, Michael M. Page, Annette Pedrotti, Peter J. Psaltis, Jan Radford, Nicola Reid, E. Robertson, Jacqueline D.M. Ryan, Mitchell Sarkies, Carl Schultz, Russell Scott, Christopher Semsarian, Leon A. Simons, Catherine Spinks, Andrew Tonkin, Frank van Bockxmeer, K. Waddell-Smith, Natalie C. Ward, Harvey D. White, Andrew M. Wilson, Ingrid Winship, Ann Woodward, Stephen J. Nicholls

    出版 2020
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    Revisão
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  11. 11
    Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

    Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death 由 Alicia B. Byrne, Peer Arts, Thuong Ha, Karin S. Kassahn, Lynn Pais, Anne O’Donnell‐Luria, François Aguet, Harindra Arachchi, Christina Austin‐Tse, Lawrence Babb, Samantha Baxter, Harrison Brand, Jaime Chang, Katherine R. Chao, Ryan L. Collins, Beryl B. Cummings, Kayla Delano, Stephanie DiTroia, Eleina England, Emily Evangelista, Selin Everett, Laurent C. Francioli, Jack B. Fu, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Julia K. Goodrich, Sanna Gudmundsson, Stacey J. Hall, Yongqing Huang, Steve Jahl, Kristen M. Laricchia, Kathryn E. Larkin, Monkol Lek, Gabrielle Lemire, Rachel B. Lipson, Alysia Kern Lovgren, Daniel G. MacArthur, Brian Mangilog, Stacy Mano, Jamie L. Marshall, Thomas E. Mullen, Kevin Nguyen, Emily O’Heir, Melanie O’Leary, Ikeoluwa Osei‐Owusu, Jorge Perez de Acha Chavez, Emma Pierce‐Hoffman, Heidi L. Rehm, Jillian Serrano, Moriel Singer‐Berk, Hana Snow, Matthew Solomonson, Rachel G. Son, Abigail Sveden, Michael E. Talkowski, Grace Tiao, Miriam S. Udler, Zaheer M. Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo Wang, Nicholas A. Watts, Ben Weisburd, Clara E. Williamson, Michael W. Wilson, Lauren Witzgall, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Shifa Zhang, Milena Babic, Mahalia S. B. Frank, Jinghua Feng, Paul Wang, David Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Van Hung Nguyen, Disna Abeysuriya, Lesley C. Adès, David J. Amor, Susan Arbuckle, Madhura Bakshi, Bligh Berry, Tiffany Boughtwood, Adam Bournazos, Alessandra Bray, Fiona Chan, Yuen Chan, Clara W. T. Chung, Jonathan R. Clark, Jackie Collett, Alison Colley, Felicity Collins, Sandra T. Cooper, Mark Corbett, Jane E. Dahlstrom, Peter A. Dargaville

    出版 2023
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