檢索結果 - Susan Arbuckle

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  1. 1
    The structure and utility of the placental pathology report

    The structure and utility of the placental pathology report 由 G Turowski, W. Tony Parks, Susan Arbuckle, Anne Flem Jacobsen, Alexander Heazell

    出版 2018
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    Revisão
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  2. 2
    Human Cytomegalovirus Infection Is Detected Frequently in Stillbirths and Is Associated With Fetal Thrombotic Vasculopathy

    Human Cytomegalovirus Infection Is Detected Frequently in Stillbirths and Is Associated With Fetal Thrombotic Vasculopathy 由 Jenna M. Iwasenko, Jonathan Howard, Susan Arbuckle, Nicole Graf, Beverley Hall, Maria E. Craig, William D. Rawlinson

    出版 2011
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    Artigo
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  3. 3
    Cirrhosis Associated with Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency

    Cirrhosis Associated with Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency 由 Annapurna Sudarsanam, Harry Singh, Bridget Wilcken, Michael Stormon, Susan Arbuckle, Bernhard Schmitt, Peter T. Clayton, John Earl, Richard Webster

    出版 2014
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  4. 4
    Human Cytomegalovirus-Induces Cytokine Changes in the Placenta with Implications for Adverse Pregnancy Outcomes

    Human Cytomegalovirus-Induces Cytokine Changes in the Placenta with Implications for Adverse Pregnancy Outcomes 由 Stuart T. Hamilton, Gillian Scott, Zin Naing, Jenna M. Iwasenko, Beverley Hall, Nicole Graf, Susan Arbuckle, Maria E. Craig, William D. Rawlinson

    出版 2012
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    Artigo
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  5. 5
    LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

    LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure 由 Lisa G. Riley, Joëlle Rudinger‐Thirion, Klaus Schmitz‐Abe, David R. Thorburn, Ryan L. Davis, Juliana Teo, Susan Arbuckle, Sandra T. Cooper, Dean R. Campagna, Magali Frugier, Kyriacos Markianos, Carolyn M. Sue, Mark D. Fleming, John Christodoulou

    出版 2015
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  6. 6
    Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

    Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia 由 Minal Menezes, Yiran Guo, Jianguo Zhang, Lisa G. Riley, Sandra T. Cooper, David R. Thorburn, Jiankang Li, Daoyuan Dong, Zhijun Li, Joseph Glessner, Ryan L. Davis, Carolyn M. Sue, Stephen I. Alexander, Susan Arbuckle, Paul Kirwan, Brendan J. Keating, Xun Xu, Hákon Hákonarson, John Christodoulou

    出版 2015
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    Artigo
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  7. 7
    A Robust Assay for Alternative Lengthening of Telomeres in Tumors Shows the Significance of Alternative Lengthening of Telomeres in Sarcomas and Astrocytomas

    A Robust Assay for Alternative Lengthening of Telomeres in Tumors Shows the Significance of Alternative Lengthening of Telomeres in Sarcomas and Astrocytomas 由 Jeremy D. Henson, Jonathan Hannay, Stanley W. McCarthy, Janice A. Royds, Thomas R. Yeager, Robert A. Robinson, Stephen B. Wharton, David Jellinek, Susan Arbuckle, Jinyoung Yoo, Bruce G. Robinson, Diana Learoyd, Paul Stalley, S. Fiona Bonar, Dihua Yu, Raphael E. Pollock, Roger R. Reddel

    出版 2005
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    Artigo
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  8. 8
    Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

    Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita 由 Gianina Ravenscroft, Flora Nolent, Sulekha Rajagopalan, Ana M. Meireles, Kevin J. Paavola, Dominique Gaillard, Elisabeth Alanio, Michael E. Buckland, Susan Arbuckle, Michael Krivanek, Jérôme Maluenda, S. Pannell, Rebecca Gooding, Royston Ong, Richard J. N. Allcock, Ellaine Dóris Fernandes Carvalho, Maria D.F. Carvalho, Fernando Kok, William S. Talbot, Judith Melki, Nigel G. Laing

    出版 2015
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    Artigo
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  9. 9
    Evaluation of an international educational programme for health care professionals on best practice in the management of a perinatal death: IMproving Perinatal mortality Review and Outcomes Via Education (IMPROVE)

    Evaluation of an international educational programme for health care professionals on best practice in the management of a perinatal death: IMproving Perinatal mortality Review and... 由 Paul A. Gardiner, Alison L. Kent, Viviana Rodríguez, Aleena M. Wojcieszek, David Ellwood, Adrienne Gordon, Patricia Wilson, Diana M Bond, Adrian Charles, Susan Arbuckle, Glenn Gardener, Jeremy Oats, Jan Jaap Erwich, Fleurisca J. Korteweg, T. H. Nguyen Duc, Susannah Hopkins Leisher, Kamal Kishore, Robert M. Silver, Alexander Heazell, Claire Storey, Vicki Flenady

    出版 2016
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    Artigo
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  10. 10
    Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

    Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder 由 Przemysław Szafrański, Avinash V. Dharmadhikari, Erwin Brosens, Priyatansh Gurha, Katarzyna Kołodziejska, Zhishuo Ou, Piotr Dittwald, Tadeusz Majewski, K. Naga Mohan, Bo Chen, Richard Person, Dick Tibboel, Annelies de Klein, Jason Pinner, Maya Chopra, Girvan Malcolm, Gregory B. Peters, Susan Arbuckle, Sixto F. Guiang, Virginia A. Hustead, José Jessurun, Russel Hirsch, David P. Witte, Isabelle Maystadt, Neil J. Sebire, Richard Fisher, Claire Langston, Partha Sen, Paweł Stankiewicz

    出版 2012
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    Artigo
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  11. 11
    DGKE Variants Cause a Glomerular Microangiopathy That Mimics Membranoproliferative GN

    DGKE Variants Cause a Glomerular Microangiopathy That Mimics Membranoproliferative GN 由 Fatih Özaltın, Binghua Li, Alysha Rauhauser, Sung-Wan An, Oğuz Söylemezoğlu, İpek Işık Gönül, Ekim Z. Taşkıran, Tulin Ibsirlioglu, Emine Korkmaz, Yelda Bilginer, Ali Düzova, Seza Özen, Rezan Topaloĝlu, Nesrin Beşbaş, Shazia Ashraf, Yong Du, Chaoying Liang, Phylip Chen, Dongmei Lu, Komal Vadnagara, Susan Arbuckle, Deborah L. Lewis, Benjamin Wakeland, Richard J. Quigg, Richard F. Ransom, Edward K. Wakeland, Matthew K. Topham, Nicolás G. Bazán, Chandra Mohan, Friedhelm Hildebrandt, Ayşı̇n Bakkaloğlu, Chou-Long Huang, Massimo Attanasio

    出版 2012
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  12. 12
    ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

    ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder 由 Lewis Williams, Asif Javed, Amin Sabri, Denise J. Morgan, Chad Huff, John Grigg, Xiu Ting Heng, Alexis Jiaying Khng, Iris H.I.M. Hollink, Margaux A. Morrison, Leah A. Owen, Katherine Anderson, Krista Kinard, Rebecca Greenlees, Danica Novacic, Sen Hou, Wadih M. Zein, George M. Rodgers, Albert T. Vitale, Neena B. Haider, Axel M. Hillmer, Pauline C. Ng, Shankaracharya, Anson Cheng, Linda Zheng, Mark C. Gillies, Marjon van Slegtenhorst, P. Martin van Hagen, Tom Missotten, Gary L. Farley, Michael Polo, J. Jeffrey Malatack, Julie Curtin, Frank Martin, Susan Arbuckle, Stephen I. Alexander, Megan Chircop, Sonia Dávila, Kathleen B. Digre, Robyn V. Jamieson, Margaret M. DeAngelis

    出版 2019
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    Artigo
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  13. 13
    Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

    Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus 由 Ann E. Frazier, Alison G. Compton, Yoshihito Kishita, Daniella H. Hock, AnneMarie E. Welch, Sumudu S. C. Amarasekera, Rocío Rius, Luke E. Formosa, Atsuko Imai‐Okazaki, David Francis, Min Wang, Nicole J. Lake, Simone Tregoning, Jafar S. Jabbari, Alexis Lucattini, Kazuhiro R. Nitta, Akira Ohtake, Kei Murayama, David J. Amor, George McGillivray, Flora Y. Wong, Marjo S. van der Knaap, R. Jeroen Vermeulen, Esko Wiltshire, Janice M. Fletcher, Barry Lewis, Gareth Baynam, Carolyn Ellaway, Shanti Balasubramaniam, Kaustuv Bhattacharya, Mary-Louise Freckmann, Susan Arbuckle, Michael Rodriguez, Ryan J. Taft, Simon Sadedin, Mark J. Cowley, André E. Minoche, Sarah E. Calvo, Vamsi K. Mootha, Michael T. Ryan, Yasushi Okazaki, David A. Stroud, Cas Simons, John Christodoulou, David R. Thorburn

    出版 2020
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    Artigo
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  14. 14
    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins 由 Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari, Kadir C. Akdemir, Shalini N. Jhangiani, Jennifer Schuette, Nihal Godiwala, Svetlana A. Yatsenko, Jessica Sebastian, Suneeta Madan‐Khetarpal, Urvashi Surti, Rosanna Abellar, David Bateman, Ashley Wilson, Melinda H. Markham, Jill Slamon, Fernando Santos‐Simarro, María Palomares‐Bralo, Julián Nevado, Pablo Lapunzina, Brian Hon‐Yin Chung, Wai-Lap Wong, Yoyo Wing Yiu Chu, Gary Tsz Kin Mok, Eitan Kerem, Joel Reiter, Namasivayam Ambalavanan, Scott Anderson, David R. Kelly, Joseph T.C. Shieh, Taryn C. Rosenthal, Kristin Scheible, Laurie A. Steiner, M. Anwar Iqbal, Margaret L. McKinnon, Sara Hamilton, Kamilla Schlade‐Bartusiak, D. W. English, Glenda Hendson, Elizabeth Roeder, Thomas S. DeNapoli, Rebecca O. Littlejohn, Daynna J. Wolff, Carol L. Wagner, Alison Yeung, David Francis, Elizabeth K. Fiorino, Morris Edelman, Joyce E. Fox, Denise A. Hayes, Sandra Janssens, Elfride De Baere, Björn Menten, Anne Loccufier, Lieve Vanwalleghem, Philippe Moerman, Yves Sznajer, Amy S. Lay, Jennifer Kussmann, Jasneek Chawla, Diane Payton, Gael E. Phillips, Erwin Brosens, Dick Tibboel, Annelies de Klein, Isabelle Maystadt, Richard Fisher, Neil J. Sebire, Alison Male, Maya Chopra, Jason Pinner, Girvan Malcolm, Gregory B. Peters, Susan Arbuckle, Melissa Lees, Zoe Mead, Oliver Quarrell, Richard Sayers, Martina Owens, Charles Shaw‐Smith, Janet Lioy, Eileen McKay, Nicole de Leeuw, Ilse Feenstra, Liesbeth Spruijt, Frances Elmslie, Timothy Thiruchelvam, Carlos A. Bacino, Claire Langston, James R. Lupski, Partha Sen, Edwina J. Popek, Paweł Stankiewicz

    出版 2016
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  15. 15
    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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