תוצאות חיפוש - Tiong Yang Tan

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  1. 1
    Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology

    Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology מאת Peter G. Farlie, Naomi L. Baker, Patrick Yap, Tiong Yang Tan

    יצא לאור 2016
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    Revisão
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  2. 2
    Genetic Dissection of Ethanol Tolerance in the Budding Yeast <i>Saccharomyces cerevisiae</i>

    Genetic Dissection of Ethanol Tolerance in the Budding Yeast <i>Saccharomyces cerevisiae</i> מאת Xiao Hu, Minghui Wang, Tiong Yang Tan, J R Li, Hongshun Yang, Lindsey Leach, Ruyue Zhang, Zewei Luo

    יצא לאור 2006
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    Artigo
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  3. 3
    Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

    Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases מאת Michelle M. Clark, Zornitza Stark, Lauge Farnaes, Tiong Yang Tan, Susan M. White, David Dimmock, Stephen F. Kingsmore

    יצא לאור 2018
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    Artigo
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  4. 4
    Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders

    Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders מאת Oliver James Dillon, Sebastian Lunke, Zornitza Stark, Alison Yeung, Natalie Thorne, Clara Gaff, Susan M. White, Tiong Yang Tan

    יצא לאור 2018
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    Artigo
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  5. 5
    The cell biology and molecular genetics of Müllerian duct development

    The cell biology and molecular genetics of Müllerian duct development מאת Zahida Yesmin Roly, Brendan Backhouse, Andrew Cutting, Tiong Yang Tan, Andrew Sinclair, Katie L. Ayers, Andrew T. Major, Craig A. Smith

    יצא לאור 2018
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  6. 6
    Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

    Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness מאת Zornitza Stark, Deborah Schofield, Melissa Martyn, Luke Rynehart, Rupendra Shrestha, Khurshid Alam, Sebastian Lunke, Tiong Yang Tan, Clara Gaff, Susan M. White

    יצא לאור 2018
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    Artigo
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  7. 7
    Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children

    Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children מאת Ilias Goranitis, You Wu, Sebastian Lunke, Susan M. White, Tiong Yang Tan, Alison Yeung, Matthew F. Hunter, Melissa Martyn, Clara Gaff, Zornitza Stark

    יצא לאור 2022
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    Artigo
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  8. 8
    Biallelic <i><scp>DICER1</scp></i> mutations occur in Wilms tumours

    Biallelic <i><scp>DICER1</scp></i> mutations occur in Wilms tumours מאת MK Wu, Nelly Sabbaghian, Bin Xu, S Addidou‐Kalucki, C. Bernard, Donghui Zou, AE Reeve, MR Eccles, Catherine Cole, CS Choong, Adrian Charles, Tiong Yang Tan, DM Iglesias, PR Goodyer, William D. Foulkes

    יצא לאור 2013
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    Artigo
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  9. 9
    Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

    Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome מאת Kerry A. Miller, Casey Ah-Cann, Megan F. Welfare, Tiong Yang Tan, Kate Pope, Georgina Caruana, Mary‐Louise Freckmann, Ravi Savarirayan, John F. Bertram, Michael S. Dobbie, John F. Bateman, Peter G. Farlie

    יצא לאור 2013
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    Artigo
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  10. 10
    Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches

    Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches מאת Brendan Backhouse, Chloe Hanna, Gorjana Robevska, Jocelyn van den Bergen, Emanuele Pelosi, Cas Simons, Peter Koopman, Achmad Zulfa Juniarto, Sonia Grover, Sultana MH Faradz, Andrew Sinclair, Katie L. Ayers, Tiong Yang Tan

    יצא לאור 2018
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    Artigo
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  11. 11
    Identification of Novel Craniofacial Regulatory Domains Located far Upstream of<i>SOX9</i>and Disrupted in Pierre Robin Sequence

    Identification of Novel Craniofacial Regulatory Domains Located far Upstream of<i>SOX9</i>and Disrupted in Pierre Robin Sequence מאת Christopher T. Gordon, Catia Attanasio, Shipra Bhatia, Sabina Benko, Morad Ansari, Tiong Yang Tan, Arnold Münnich, L Pennacchio, Véronique Abadie, I. Karen Temple, Alice Goldenberg, Veronica van Heyningen, Jeanne Amiel, David Fitzpatrick, Dirk A. Kleinjan, Axel Visel, Stanislas Lyonnet

    יצא לאור 2014
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    Artigo
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  12. 12
    Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

    Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia מאת Belinda Campos‐Xavier, Danielle Martinet, John F. Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, A Baxová, Karl‐Henrik Gustavson, Zvi Borochowitz, A. Micheil Innes, Sheila Unger, J. Beckmann, Lauréane Mittaz, Diana Ballhausen, Andrea Superti‐Furga, Ravi Savarirayan, Luisa Bonafé

    יצא לאור 2009
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    Artigo
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  13. 13
    A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

    A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis מאת Tiong Yang Tan, Sebastian Lunke, Belinda Chong, Dean Phelan, Miriam Fanjul‐Fernández, Justine E. Marum, Vanessa Siva Kumar, Zornitza Stark, Alison Yeung, Natasha J. Brown, Chloe Stutterd, Martin B. Delatycki, Simon Sadedin, Melissa Martyn, Ilias Goranitis, Natalie Thorne, Clara Gaff, Susan M. White

    יצא לאור 2019
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    Artigo
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  14. 14
    Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

    Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures מאת Tiong Yang Tan, Jiří Sedmík, Mark P. Fitzgerald, Rivka Sukenik‐Halevy, Liam P. Keegan, Ingo Helbig, Lina Basel‐Salmon, Lior Cohen, Rachel Straussberg, Wendy K. Chung, Mayada Helal, Reza Maroofian, Henry Houlden, Jane Juusola, Simon Sadedin, Lynn Pais, Katherine B. Howell, Susan M. White, John Christodoulou, Mary A. O’Connell

    יצא לאור 2020
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    Artigo
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  15. 15
    Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

    Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review מאת Natalie B. Tan, Rachel Stapleton, Zornitza Stark, Martin B. Delatycki, Alison Yeung, Matthew F. Hunter, David J. Amor, Natasha J. Brown, Chloe Stutterd, George McGillivray, Patrick Yap, Matthew Regan, Belinda Chong, Miriam Fanjul‐Fernández, Justine E. Marum, Dean Phelan, Lynn Pais, Susan M. White, Sebastian Lunke, Tiong Yang Tan

    יצא לאור 2020
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  16. 16
    Meeting the challenges of implementing rapid genomic testing in acute pediatric care

    Meeting the challenges of implementing rapid genomic testing in acute pediatric care מאת Zornitza Stark, Sebastian Lunke, Gemma R. Brett, Natalie B. Tan, Rachel Stapleton, Smitha Kumble, Alison Yeung, Dean Phelan, Belinda Chong, Miriam Fanjul‐Fernández, Justine E. Marum, Matthew F. Hunter, Anna Jarmolowicz, Yael Prawer, Jessica R. Riseley, Matthew Regan, Justine Elliott, Melissa Martyn, Stephanie Best, Tiong Yang Tan, Clara Gaff, Susan M. White

    יצא לאור 2018
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    Artigo
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  17. 17
    Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

    Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect מאת Vanessa Luiza Romanelli Tavares, Christopher T. Gordon, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Norine Voisin, Tiong Yang Tan, Andrew A. Heggie, Siulan Vendramini‐Pittoli, Evan J. Propst, Blake C. Papsin, Tatiana Teixeira Torres, Henk P.J. Buermans, Luciane P. Capelo, Johan T. den Dunnen, Maria Leine Guion‐Almeida, Stanislas Lyonnet, Jeanne Amiel, Maria Rita Passos‐Bueno

    יצא לאור 2014
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    Artigo
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  18. 18
    Genotype and phenotype spectrum of NRAS germline variants

    Genotype and phenotype spectrum of NRAS germline variants מאת Franziska Altmüller, Christina Lißewski, Débora Romeo Bertola, Elisabetta Flex, Zornitza Stark, Stephanie Spranger, Gareth Baynam, Michelle Buscarilli, Sarah Dyack, Jane Gillis, Helger G. Yntema, Francesca Pantaleoni, Rosa LE van Loon, Sara MacKay, Kym Mina, Ina Schanze, Tiong Yang Tan, Maie Walsh, Susan M. White, Marena R. Niewisch, Sixto García‐Miñaúr, Diego Plaza, Mohammad Reza Ahmadian, Hélène Cavé, Marco Tartaglia, Martin Zenker

    יצא לאור 2017
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    Artigo
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  19. 19
    De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

    De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea מאת Fan Xia, Matthew N. Bainbridge, Tiong Yang Tan, Michael F. Wangler, Angela E. Scheuerle, Elaine H. Zackai, Margaret Harr, V. Reid Sutton, Roopa L. Nalam, Wenmiao Zhu, Margot Nash, Monique M. Ryan, Joy Yaplito‐Lee, Jill V. Hunter, Matthew A. Deardorff, Samantha Penney, Arthur L. Beaudet, Sharon E. Plon, Eric Boerwinkle, James R Lupski, Christine M. Eng, Donna M. Muzny, Yaping Yang, Richard A. Gibbs

    יצא לאור 2014
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    Artigo
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  20. 20
    Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

    Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions מאת Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R. Brett, Emma Creed, Anna Jarmolowicz, Patrick Yap, Maie Walsh, Lilian Downie, David J. Amor, Ravi Savarirayan, George McGillivray, Alison Yeung, Heidi Peters, Susan J. Robertson, Aaron Robinson, Ivan Macciocca, Simon Sadedin, Katrina M. Bell, Alicia Oshlack, Peter Georgeson, Natalie Thorne, Clara Gaff, Susan M. White

    יצא לאור 2017
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    Artigo
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