المؤلفون: Braun, Efrem, Baluta, Chris, Doyle, Trisha F., Hall, Patricia L., Hill, Robert S., Holland, Matthew P., Loewenstein, Michael, Miller, Eric D., Witthoeft, Michael C., Yaqoob, Tahir

المصدر: SPIE 2022

مصطلحات موضوعية: Astrophysics - Instrumentation and Methods for Astrophysics, Astrophysics - High Energy Astrophysical Phenomena

الوصول الحر: http://arxiv.org/abs/2210.12603Test

المؤلفون: Doyle, Trisha F., Holland, Matthew P., Hill, Robert S., Yaqoob, Tahir, Loewenstein, Mike, Miller, Eric D., Hall, Patricia L., Braun, Efrem, Perez-Solis, Efrain

المصدر: SPIE 2022

مصطلحات موضوعية: Astrophysics - Instrumentation and Methods for Astrophysics, Astrophysics - High Energy Astrophysical Phenomena

الوصول الحر: http://arxiv.org/abs/2210.07840Test

المؤلفون: Carling, Rachel S., Hedgethorne, Katy, Chakrapani, Anupam, Hall, Patricia L., Flynn, Nick, Greenfield, Toby, Moat, Stuart J., Ssali, Joshua, Shakespeare, Lynette, Taj, Nazia, Wu, Teresa H. Y., Anderson, Mark, Ghosh, Arunabha, Lemonde, Hugh, Pierre, Germaine, Sharrard, Mark, Sreekantam, Sreevidya, Bonham, James R.

المساهمون: Ficicioglu, Can

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/167795/1/IJNS-10-00024-v3.pdfTest; Carling, Rachel S., Hedgethorne, Katy, Chakrapani, Anupam, Hall, Patricia L., Flynn, Nick, Greenfield, Toby, Moat, Stuart J. https://orca.cardiff.ac.uk/view/cardiffauthors/A0083848.htmlTest, Ssali, Joshua, Shakespeare, Lynette, Taj, Nazia, Wu, Teresa H. Y., Anderson, Mark, Ghosh, Arunabha, Lemonde, Hugh, Pierre, Germaine, Sharrard, Mark, Sreekantam, Sreevidya and Bonham, James R. 2024. Retrospective review of positive newborn screening results for Isovaleric Acidemia and development of a strategy to improve the efficacy of newborn screening in the UK. International Journal of Neonatal Screening 10 (1) , 24. 10.3390/ijns10010024 https://doi.org/10.3390/ijns10010024Test file https://orca.cardiff.ac.uk/id/eprint/167795/1/IJNS-10-00024-v3.pdfTest

الإتاحة: https://doi.org/10.3390/ijns10010024Test
https://orca.cardiff.ac.uk/id/eprint/167795Test/
https://orca.cardiff.ac.uk/id/eprint/167795/1/IJNS-10-00024-v3.pdfTest

المؤلفون: Carling, Rachel S, Hedgethorne, Katy, Chakrapani, Anupam, Hall, Patricia L, Flynn, Nick, Greenfield, Toby, Moat, Stuart J, Ssali, Joshua, Shakespeare, Lynette, Taj, Nazia, Wu, Teresa HY, Anderson, Mark, Ghosh, Arunabha, Lemonde, Hugh, Pierre, Germaine, Sharrard, Mark, Sreekantam, Sreevidya, Bonham, James R

مصطلحات موضوعية: false positive, inherited metabolic disease, isovaleric acidemia, newborn screening

وصف الملف: text/xml; application/zip; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/366705Test

الإتاحة: https://www.repository.cam.ac.uk/handle/1810/366705Test

المؤلفون: Sanders, Karen, Peck, Dawn, Bentz Pino, Gisele, Studinski Jones, April, White, Amy, Gavrilov, Dimitar, Matern, Dietrich, Oglesbee, Devin, Schultz, Matthew, Tortorelli, Silvia, Hall, Patricia L.

المصدر: Molecular Genetics and Metabolism ; volume 142, issue 1, page 108455 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108455Test
https://api.elsevier.com/content/article/PII:S1096719224002701?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719224002701?httpAccept=text/plainTest

المؤلفون: Matern, Dietrich, Basheeruddin, Khaja, Klug, Tracy L., McKee, Gwendolyn, Edge, Patricia U., Hall, Patricia L., Kurtzberg, Joanne, Orsini, Joseph J.

المصدر: International Journal of Neonatal Screening (IJNS); Mar2024, Vol. 10 Issue 1, p10, 9p

المؤلفون: Khan, Zaib Un Nisa, Jafri, Lena, Hall, Patricia L., Schultz, Matthew J., Ahmed, Sibtain, Khan, Aysha Habib, Majid, Hafsa

المصدر: Annals of Medicine & Surgery ; volume 82 ; ISSN 2049-0801

الإتاحة: https://doi.org/10.1016/j.amsu.2022.104651Test
https://api.elsevier.com/content/article/PII:S204908012201411X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S204908012201411X?httpAccept=text/plainTest

المؤلفون: Crawford, Sarah, Sablon, Elizabeth, Ali, Nadia, Rosen, Ami R., Hall, Patricia L., Neira Fresneda, Juanita

المصدر: International Journal of Neonatal Screening (IJNS); Dec2023, Vol. 9 Issue 4, p53, 8p

المؤلفون: Guenzel, Adam J., Hall, Patricia L., Scott, Anna I., Lam, Christina, Chang, Irene J., Thies, Jenny, Ferreira, Carlos R., Pichurin, Pavel, Laxen, William, Raymond, Kimiyo, Gavrilov, Dimitar K., Oglesbee, Devin, Rinaldo, Piero, Matern, Dietrich, Tortorelli, Silvia

المصدر: JIMD Reports ; volume 60, issue 1, page 67-74 ; ISSN 2192-8312 2192-8312

الإتاحة: https://doi.org/10.1002/jmd2.12217Test

المؤلفون: Tise, Christina G., Verscaj, Courtney P., Mendelsohn, Bryce A., Woods, Jeremy, Lee, Chung U., Enns, Gregory M., Stander, Zinandré, Hall, Patricia L., Cowan, Tina M., Cusmano‐Ozog, Kristina P.

المصدر: American Journal of Medical Genetics Part A ; volume 191, issue 6, page 1492-1501 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.63159Test