Showing 161 - 180 results of 442 for search '"International Journal of Neonatal Screening"', query time: 0.13s Refine Results
  1. 161
    12th ISNS European Regional Meeting Oral and Poster Abstracts

    12th ISNS European Regional Meeting Oral and Poster Abstracts by Kate Hall

    Published 2021-10-01
    “…International Journal of Neonatal Screening…”
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  2. 162
    The Neonatal Screening Program in Brazil, Focus on Sickle Cell Disease (SCD)

    The Neonatal Screening Program in Brazil, Focus on Sickle Cell Disease (SCD) by Ana C. Silva-Pinto, Maria Cândida Alencar de Queiroz, Paula Juliana Antoniazzo Zamaro, Miranete Arruda, Helena Pimentel dos Santos

    Published 2019-01-01
    “…International Journal of Neonatal Screening…”
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  3. 163
    Universal Implementation of Newborn Screening in India

    Universal Implementation of Newborn Screening in India by Thomas Mookken

    Published 2020-03-01
    “…International Journal of Neonatal Screening…”
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  4. 164
    Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy

    Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy by Patrice K. Held, Ian M. Bird, Natasha L. Heather

    Published 2020-08-01
    “…International Journal of Neonatal Screening…”
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  5. 165
    Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism—A Clinical Report and Recommendations

    Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism—A Clinical Report and Recommendations by Katherine G. Langley, Elizabeth N. Chisholm, Brooke B. Spangler, Erin T. Strovel, Jennifer O. Macdonald, Samantha Schrier Vergano

    Published 2016-11-01
    “…International Journal of Neonatal Screening…”
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  6. 166
    Pulse Oximetry Screening Adapted to a System with Home Births: The Dutch Experience

    Pulse Oximetry Screening Adapted to a System with Home Births: The Dutch Experience by Ilona C. Narayen, Nico A. Blom, Arjan B. te Pas

    Published 2018-03-01
    “…International Journal of Neonatal Screening…”
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  7. 167
    Newborn Screening for Selected Disorders in Nepal: A Pilot Study

    Newborn Screening for Selected Disorders in Nepal: A Pilot Study by Arti Sharma Pandey, Suchita Joshi, Rateena Rajbhandari, Prerana Kansakar, Sadichhya Dhakal, Ralph Fingerhut

    Published 2019-04-01
    “…International Journal of Neonatal Screening…”
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  8. 168
    Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study

    Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study by Tiffany Wotton, Veronica Wiley, Bruce Bennetts, Louise Christie, Bridget Wilcken, Gemma Jenkins, Carolyn Rogers, Jackie Boyle, Michael Field

    Published 2018-02-01
    “…International Journal of Neonatal Screening…”
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  9. 169
    Delivering Positive Newborn Screening Results: Cost Analysis of Existing Practice versus Innovative, Co-Designed Strategies from the ReSPoND Study

    Delivering Positive Newborn Screening Results: Cost Analysis of Existing Practice versus Innovative, Co-Designed Strategies from the ReSPoND Study by Francesco Fusco, Jane Chudleigh, Pru Holder, James R. Bonham, Kevin W. Southern, Alan Simpson, Louise Moody, Ellinor K. Olander, Holly Chinnery, Stephen Morris

    Published 2022-03-01
    “…International Journal of Neonatal Screening…”
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  10. 170
    Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening

    Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening by Robert J. Sicko, Colleen F. Stevens, Erin E. Hughes, Melissa Leisner, Helen Ling, Carlos A. Saavedra-Matiz, Michele Caggana, Denise M. Kay

    Published 2021-11-01
    “…International Journal of Neonatal Screening…”
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  11. 171
    Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data Model

    Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data Model by David Jones, Jianyin Shao, Heidi Wallis, Cody Johansen, Kim Hart, Marzia Pasquali, Ramkiran Gouripeddi, Andreas Rohrwasser

    Published 2021-10-01
    “…International Journal of Neonatal Screening…”
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  12. 172
    Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II

    Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II by Heather Bilyeu, Jon Washburn, Lacey Vermette, Tracy Klug

    Published 2020-10-01
    “…International Journal of Neonatal Screening…”
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  13. 173
    <i>IJNS</i> Turns Seven—High Impact for Neonatal Screening

    <i>IJNS</i> Turns Seven—High Impact for Neonatal Screening by Ralph Fingerhut, Peter C. J. I. Schielen

    Published 2021-03-01
    “…International Journal of Neonatal Screening…”
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  14. 174
    Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine <i>SMN2</i> Copy Number

    Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine <i>SMN2</i> Copy Number by Binod Kumar, Samantha Barton, Jolanta Kordowska, Roger B. Eaton, Anne M. Counihan, Jaime E. Hale, Anne Marie Comeau

    Published 2021-07-01
    “…International Journal of Neonatal Screening…”
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  15. 175
    Newborn Screening for Fabry Disease: Current Status of Knowledge

    Newborn Screening for Fabry Disease: Current Status of Knowledge by Vincenza Gragnaniello, Alessandro P. Burlina, Anna Commone, Daniela Gueraldi, Andrea Puma, Elena Porcù, Maria Stornaiuolo, Chiara Cazzorla, Alberto B. Burlina

    Published 2023-06-01
    “…International Journal of Neonatal Screening…”
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  16. 176
    Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong

    Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong by Kiran Moti Belaramani, Cheuk Wing Fung, Anne Mei Kwun Kwok, Shing Yan Robert Lee, Eric Kin Cheong Yau, Ho Ming Luk, Chloe Miu Mak, Matthew Chun Wing Yeung, Olivia Miu Yung Ngan

    Published 2023-08-01
    “…International Journal of Neonatal Screening…”
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  17. 177
    Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles

    Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles by Michael F. Cogley, Amy E. Wiberley-Bradford, Sean T. Mochal, Sandra J. Dawe, Zachary D. Piro, Mei W. Baker

    Published 2021-07-01
    “…International Journal of Neonatal Screening…”
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  18. 178
    Establishing a National Community of Practice for Newborn Screening Follow-Up

    Establishing a National Community of Practice for Newborn Screening Follow-Up by Erin Darby, John Thompson, Carol Johnson, Sikha Singh, Jelili Ojodu

    Published 2021-07-01
    “…International Journal of Neonatal Screening…”
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  19. 179
    Changes in the Incidence of Infantile Spinal Muscular Atrophy in Shikoku, Japan between 2011 and 2020

    Changes in the Incidence of Infantile Spinal Muscular Atrophy in Shikoku, Japan between 2011 and 2020 by Kentaro Okamoto, Hisahide Nishio, Takahiro Motoki, Toshihiro Jogamoto, Kaori Aibara, Yoichi Kondo, Kentaro Kawamura, Yukihiko Konishi, Chiho Tokorodani, Ritsuo Nishiuchi, Mariko Eguchi

    Published 2022-09-01
    “…International Journal of Neonatal Screening…”
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  20. 180
    Family Perceptions of Newborn Cytomegalovirus Screening: A Qualitative Study

    Family Perceptions of Newborn Cytomegalovirus Screening: A Qualitative Study by Michael J. Cannon, Denise M. Levis, Holly McBride, Danie Watson, Carol Rheaume, Mary Ann Kirkconnell Hall, Tatiana M. Lanzieri, Gail Demmler-Harrison

    Published 2021-11-01
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