Works matching IS 2409515X AND DT 2021 AND VI 7 AND IP 4

Results: 23

Family Perceptions of Newborn Cytomegalovirus Screening: A Qualitative Study.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 80, doi. 10.3390/ijns7040080

By:

Cannon, Michael J.;
Levis, Denise M.;
McBride, Holly;
Watson, Danie;
Rheaume, Carol;
Hall, Mary Ann Kirkconnell;
Lanzieri, Tatiana M.;
Demmler-Harrison, Gail

Publication type:

Article

The Editor's Choice for Issue 3, Volume 7.

Published in:

2021

By:

Fingerhut, Ralph

Publication type:

Editorial

Newborn Screening Practices for Beta-Thalassemia in the United States.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 83, doi. 10.3390/ijns7040083

By:

Bender, Michael A.;
Hulihan, Mary;
Dorley, Mary Christine;
Aguinaga, Maria del Pilar;
Ojodu, Jelili;
Yusuf, Careema

Publication type:

Article

DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 79, doi. 10.3390/ijns7040079

By:

Niba, Emma Tabe Eko;
Wijaya, Yogik Onky Silvana;
Awano, Hiroyuki;
Taniguchi, Naoko;
Takeshima, Yasuhiro;
Nishio, Hisahide;
Shinohara, Masakazu

Publication type:

Article

The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 78, doi. 10.3390/ijns7040078

By:

Zhou, Janet R.;
Ridsdale, Ross;
MacNeil, Lauren;
Lilley, Margaret;
Hoang, Stephanie;
Christian, Susan;
Blumenschein, Pamela;
Wolan, Vanessa;
Bruce, Aisha;
Singh, Gurpreet;
Wright, Nicola;
Parboosingh, Jillian S.;
Lamont, Ryan E.;
Sosova, Iveta

Publication type:

Article

The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 68, doi. 10.3390/ijns7040068

By:

Kikuchi, Atsuo;
Wada, Yoichi;
Ohura, Toshihiro;
Kure, Shigeo

Publication type:

Article

Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 76, doi. 10.3390/ijns7040076

By:

Sen, Kuntal;
Harmon, Jennifer;
Gropman, Andrea L.

Publication type:

Article

Sensitive and Robust LC-MS/MS Assay to Quantify 25-Hydroxyvitamin D in Leftover Protein Extract from Dried Blood Spots.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 82, doi. 10.3390/ijns7040082

By:

Boelt, Sanne Grundvad;
Melgaard, Lars;
Thorbek, Marta Jadwiga;
MacSween, Nadia Sara Jensen;
McGrath, John J.;
Cohen, Arieh S.

Publication type:

Article

Targeted Secondary Screening for Congenital Hypothyroidism in High-Risk Neonates: A 9 Year Review in a Large California Health Care System.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 81, doi. 10.3390/ijns7040081

By:

Cortez, Alan B.;
Lin, Bryan;
May, Joshua A.

Publication type:

Article

Province-Wide Stool Color Card Screening for Biliary Atresia in Lower-Saxony: Experiences with Passive Distribution Strategies and Results.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 75, doi. 10.3390/ijns7040075

By:

Madadi-Sanjani, Omid;
Kuebler, Joachim F.;
Uecker, Marie;
Pfister, Eva-Doreen;
Baumann, Ulrich;
Kunze-Hullmann, Berit;
Blaser, Jochen;
Buck, Thomas;
Petersen, Claus

Publication type:

Article

Future Perspectives of Newborn Screening for Inborn Errors of Immunity.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 74, doi. 10.3390/ijns7040074

By:

Blom, Maartje;
Bredius, Robbert G. M.;
van der Burg, Mirjam

Publication type:

Article

Establishing Newborn Screening for SCID in the USA: Experience in California †.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 72, doi. 10.3390/ijns7040072

By:

Puck, Jennifer M.;
Gennery, Andrew R.

Publication type:

Article

Implementation of Hospital-Based Supplemental Duchenne Muscular Dystrophy Newborn Screening (sDMDNBS): A Pathway to Broadening Adoption.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 77, doi. 10.3390/ijns7040077

By:

Parad, Richard B.;
Sheldon, Yvonne;
Bhattacharjee, Arindam

Publication type:

Article

12th ISNS European Regional Meeting Oral and Poster Abstracts.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 71, doi. 10.3390/ijns7040071

By:

Hall, Kate

Publication type:

Article

Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data Model.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 70, doi. 10.3390/ijns7040070

By:

Jones, David;
Shao, Jianyin;
Wallis, Heidi;
Johansen, Cody;
Hart, Kim;
Pasquali, Marzia;
Gouripeddi, Ramkiran;
Rohrwasser, Andreas

Publication type:

Article

Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 73, doi. 10.3390/ijns7040073

By:

Sicko, Robert J.;
Stevens, Colleen F.;
Hughes, Erin E.;
Leisner, Melissa;
Ling, Helen;
Saavedra-Matiz, Carlos A.;
Caggana, Michele;
Kay, Denise M.

Publication type:

Article

Early Development of Newborn Screening for HCU and Current Challenges.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 67, doi. 10.3390/ijns7040067

By:

Levy, Harvey L.

Publication type:

Article

Processing of Positive Newborn Screening Results for Congenital Hypothyroidism: A Qualitative Exploration of Current Practice in England.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 64, doi. 10.3390/ijns7040064

By:

Holder, Pru;
Cheetham, Tim;
Cocca, Alessandra;
Chinnery, Holly;
Chudleigh, Jane

Publication type:

Article

Long-Term Course of Hypothyroidism Detected through Neonatal TSH Screening in a Population-Based Cohort of Very Preterm Infants Born at Less Than 32 Weeks of Gestation.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 65, doi. 10.3390/ijns7040065

By:

Odenwald, Birgit;
Fischer, Aline;
Röschinger, Wulf;
Liebl, Bernhard;
Schmidt, Heinrich;
Nennstiel, Uta

Publication type:

Article

Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 69, doi. 10.3390/ijns7040069

By:

Adams, Stuart P.;
Gravett, Emma;
Kent, Natalie;
Kricke, Susanne;
Ifederu, Adeboye;
Scoto, Mariacristina;
Samsuddin, Salma;
Muntoni, Francesco

Publication type:

Article

Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 62, doi. 10.3390/ijns7040062

By:

Martín-Nalda, Andrea;
Rivière, Jacques G.;
Català-Besa, Mireia;
García-Prat, Marina;
Parra-Martínez, Alba;
Martínez-Gallo, Mónica;
Colobran, Roger;
Argudo-Ramírez, Ana;
Marín-Soria, Jose Luis;
García-Villoria, Judit;
Alonso, Laura;
Arranz-Amo, Jose Antonio;
la Marca, Giancarlo;
Soler-Palacín, Pere

Publication type:

Article

Correction: Furnier et al. Translating Molecular Technologies into Routine Newborn Screening Practice. Int. J. Neonatal Screen. 2020, 6 , 80.

Published in:

2021

By:

Furnier, Sarah M.;
Durkin, Maureen S.;
Baker, Mei W.

Publication type:

Correction Notice

Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 63, doi. 10.3390/ijns7040063

By:

Ruiz-Schultz, Nicole;
Asay, Bryce;
Rohrwasser, Andreas

Publication type:

Article