Torthaí cuardaigh - 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 de réir David J. Amor, Jane Halliday

    Foilsithe / Cruthaithe 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? de réir Danya F. Vears, David J. Amor

    Foilsithe / Cruthaithe 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 de réir Claudine M. Kraan, David E. Godler, David J. Amor

    Foilsithe / Cruthaithe 2018
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  4. 4
    Principles of Genomic Newborn Screening Programs

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

    Foilsithe / Cruthaithe 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 de réir Gemma R. Brett, Sylvia A. Metcalfe, David J. Amor, Jane Halliday

    Foilsithe / Cruthaithe 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 de réir Jane Halliday, Kay Oke, Sue Breheny, Elizabeth M. Algar, David J. Amor

    Foilsithe / Cruthaithe 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 de réir Carmen L. Wilson, Jane Fisher, Karin Hammarberg, David J. Amor, Jane Halliday

    Foilsithe / Cruthaithe 2011
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  8. 8
    Genetic architecture of childhood speech disorder: a review

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

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

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

    Foilsithe / Cruthaithe 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 de réir Damien F. Hudson, David J. Amor, Amber Boys, Kathy Butler, Lorna Williams, Tao Zhang, Paul Kalitsis

    Foilsithe / Cruthaithe 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... de réir David J. Amor, Juanjuan Xu, J. Halliday, Ivan Francis, D. Healy, Sue Breheny, H.W.G. Baker, AM Jaques

    Foilsithe / Cruthaithe 2009
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  12. 12
    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 de réir Jane Halliday, Obioha C. Ukoumunne, H.W.G. Baker, Sue Breheny, AM Jaques, Claire Garrett, D. Healy, David J. Amor

    Foilsithe / Cruthaithe 2009
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  13. 13
    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 de réir Cristina Mei, Evelina Fedorenko, David J. Amor, Amber Boys, Caitlyn Hoeflin, Peter Carew, Trent Burgess, Simon E. Fisher, Angela Morgan

    Foilsithe / Cruthaithe 2018
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  14. 14
    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 de réir Alice M. Jaques, David J. Amor, H.W.G. Baker, David Healy, Obioha C. Ukoumunne, Sue Breheny, Claire Garrett, Jane Halliday

    Foilsithe / Cruthaithe 2010
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  15. 15
    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 de réir Namitha Mohandas, Sebastian Bass-Stringer, Jovana Maksimovic, Kylie Crompton, Yuk Jing Loke, Janet Walstab, Susan Reid, David J. Amor, Dinah Reddihough, Jeffrey M. Craig

    Foilsithe / Cruthaithe 2018
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  16. 16
    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 de réir Jane Halliday, Cate Wilson, Karin Hammarberg, Lex W. Doyle, Fiona Bruinsma, Robert I. McLachlan, John McBain, Turi Berg, Jane Fisher, David J. Amor

    Foilsithe / Cruthaithe 2014
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  17. 17
    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 de réir 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

    Foilsithe / Cruthaithe 2011
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  18. 18
    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 de réir 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

    Foilsithe / Cruthaithe 2019
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  19. 19
    Speech and language deficits are central to SETBP1 haploinsufficiency disorder

    Speech and language deficits are central to SETBP1 haploinsufficiency disorder de réir Angela Morgan, Ruth Braden, Maggie M. K. Wong, Estelle Colin, David J. Amor, Frédérique Liégeois, Siddharth Srivastava, Adam P. Vogel, Varoona Bizaoui, Kara Ranguin, Simon E. Fisher, Bregje W.M. van Bon

    Foilsithe / Cruthaithe 2021
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  20. 20
    14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements

    14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements de réir Lila Allou, Laëtitia Lambert, D. Amsallem, Éric Bieth, Patrick Edery, Anne Destrèe, François Rivier, David J. Amor, Elizabeth Thompson, Julian Nicholl, Michael Harbord, Christophe Némos, Aline Saunier, Aissa Moustaïne, Adeline Vigouroux, Philippe Jonveaux, Christophe Philippe

    Foilsithe / Cruthaithe 2012
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