Výsledky vyhledávání - David J. Amor

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  1. 1
    A review of known imprinting syndromes and their association with assisted reproduction technologies

    A review of known imprinting syndromes and their association with assisted reproduction technologies Autor David J. Amor, Jane Halliday

    Vydáno 2008
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  2. 2
    A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?

    A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom? Autor Danya F. Vears, David J. Amor

    Vydáno 2022
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  3. 3
    Epigenetics of fragile X syndrome and fragile X‐related disorders

    Epigenetics of fragile X syndrome and fragile X‐related disorders Autor Claudine M. Kraan, David E. Godler, David J. Amor

    Vydáno 2018
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  4. 4
    Principles of Genomic Newborn Screening Programs

    Principles of Genomic Newborn Screening Programs Autor Lilian Downie, Jane Halliday, Sharon Lewis, David J. Amor

    Vydáno 2021
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  5. 5
    An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice

    An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice Autor Gemma R. Brett, Sylvia A. Metcalfe, David J. Amor, Jane Halliday

    Vydáno 2012
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  6. 6
    Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study

    Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study Autor Jane Halliday, Kay Oke, Sue Breheny, Elizabeth M. Algar, David J. Amor

    Vydáno 2004
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  7. 7
    Looking downstream: a review of the literature on physical and psychosocial health outcomes in adolescents and young adults who were conceived by ART

    Looking downstream: a review of the literature on physical and psychosocial health outcomes in adolescents and young adults who were conceived by ART Autor Carmen L. Wilson, Jane Fisher, Karin Hammarberg, David J. Amor, Jane Halliday

    Vydáno 2011
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  8. 8
    Genetic architecture of childhood speech disorder: a review

    Genetic architecture of childhood speech disorder: a review Autor Angela Morgan, David J. Amor, Miya St John, Ingrid E. Scheffer, Michael S. Hildebrand

    Vydáno 2024
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  9. 9
    Fertility in <scp>T</scp>urner syndrome

    Fertility in <scp>T</scp>urner syndrome Autor Jacqueline Hewitt, Yasmin Jayasinghe, David J. Amor, Lynn Gillam, Garry L. Warne, Sonia Grover, Margaret Zacharin

    Vydáno 2013
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  10. 10
    Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome

    Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome Autor Damien F. Hudson, David J. Amor, Amber Boys, Kathy Butler, Lorna Williams, Tao Zhang, Paul Kalitsis

    Vydáno 2016
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  11. 11
    Pregnancies conceived using assisted reproductive technologies (ART) have low levels of pregnancy-associated plasma protein-A (PAPP-A) leading to a high rate of false-positive results in first trimester screening for Down syndrome

    Pregnancies conceived using assisted reproductive technologies (ART) have low levels of pregnancy-associated plasma protein-A (PAPP-A) leading to a high rate of false-positive resu... Autor David J. Amor, Juanjuan Xu, J. Halliday, Ivan Francis, D. Healy, Sue Breheny, H.W.G. Baker, AM Jaques

    Vydáno 2009
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  12. 12
    Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

    Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project Autor Lilian Downie, Jane Halliday, Sharon Lewis, Sebastian Lunke, Elly Lynch, Melissa Martyn, Clara Gaff, Anna Jarmolowicz, David J. Amor

    Vydáno 2020
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  13. 13
    Increased risk of blastogenesis birth defects, arising in the first 4 weeks of pregnancy, after assisted reproductive technologies

    Increased risk of blastogenesis birth defects, arising in the first 4 weeks of pregnancy, after assisted reproductive technologies Autor Jane Halliday, Obioha C. Ukoumunne, H.W.G. Baker, Sue Breheny, AM Jaques, Claire Garrett, D. Healy, David J. Amor

    Vydáno 2009
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  14. 14
    Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion

    Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion Autor Cristina Mei, Evelina Fedorenko, David J. Amor, Amber Boys, Caitlyn Hoeflin, Peter Carew, Trent Burgess, Simon E. Fisher, Angela Morgan

    Vydáno 2018
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  15. 15
    Adverse obstetric and perinatal outcomes in subfertile women conceiving without assisted reproductive technologies

    Adverse obstetric and perinatal outcomes in subfertile women conceiving without assisted reproductive technologies Autor Alice M. Jaques, David J. Amor, H.W.G. Baker, David Healy, Obioha C. Ukoumunne, Sue Breheny, Claire Garrett, Jane Halliday

    Vydáno 2010
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  16. 16
    Epigenome-wide analysis in newborn blood spots from monozygotic twins discordant for cerebral palsy reveals consistent regional differences in DNA methylation

    Epigenome-wide analysis in newborn blood spots from monozygotic twins discordant for cerebral palsy reveals consistent regional differences in DNA methylation Autor Namitha Mohandas, Sebastian Bass-Stringer, Jovana Maksimovic, Kylie Crompton, Yuk Jing Loke, Janet Walstab, Susan Reid, David J. Amor, Dinah Reddihough, Jeffrey M. Craig

    Vydáno 2018
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  17. 17
    Comparing indicators of health and development of singleton young adults conceived with and without assisted reproductive technology

    Comparing indicators of health and development of singleton young adults conceived with and without assisted reproductive technology Autor Jane Halliday, Cate Wilson, Karin Hammarberg, Lex W. Doyle, Fiona Bruinsma, Robert I. McLachlan, John McBain, Turi Berg, Jane Fisher, David J. Amor

    Vydáno 2014
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  18. 18
    The incidence, prevalence and clinical features of<i>MECP2</i>duplication syndrome in Australian children

    The incidence, prevalence and clinical features of<i>MECP2</i>duplication syndrome in Australian children Autor Peter Giudice‐Nairn, Jenny Downs, Kingsley Wong, Dylan Wilson, Daniel Ta, Michael Gattas, David J. Amor, Elizabeth Thompson, Cathy Kirrali‐Borri, Carolyn Ellaway, Helen Leonard

    Vydáno 2019
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  19. 19
    Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

    Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes Autor Katherine R. Smith, Catherine J. Bromhead, Michael S. Hildebrand, A. Eliot Shearer, Paul J. Lockhart, Hossein Najmabadi, Richard J. Leventer, George McGillivray, David J. Amor, Richard J. Smith, Melanie Bahlo

    Vydáno 2011
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  20. 20
    Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis

    Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis Autor Lei Zhang, Yining Bao, Moeen Riaz, Jane Tiller, Danny Liew, Xun Zhuang, David J. Amor, Aamira Huq, Lara Petelin, Mark Nelson, Paul A. James, Ingrid Winship, John J. McNeil, Paul Lacaze

    Vydáno 2019
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