المؤلفون: Coleman Turgeon, Kari Casas, Ryan Flanagan, Amy White, Dawn Peck, Gisele Bentz Pino, April Studinski Jones, Dimitar Gavrilov, Devin Oglesbee, Matthew J. Schultz, Silvia Tortorelli, Dietrich Matern, Patricia L. Hall

المصدر: Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101110- (2024)

مصطلحات موضوعية: Phenylketonuria, Phenylalanine, Pegvaliase, Pre-analytical error, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000636; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/3186e1c501f647c78e2451cc78f87724

المؤلفون: Rachel Wurth, Coleman Turgeon, Zinandre Stander, Dietrich Matern, Amy White, Dimitar Gavrilov, Patricia Hall, Matthew Schultz, Silvia Tortorelli, Devin Oglesbee

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100876- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424000220; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/c4689196be464566a68d7353ba6e0b68

المؤلفون: Amy White, Jordan Bontrager, William Laxen, Perry Loken, Tiffany Grider, Josef Alawneh, Vincent Carson, Emily Lauer, Angela Pickart, Zhiyv Niu, Devin Oglesbee, Dimitar Gavrilov, Silvia Tortorelli, Patricia Hall, Dietrich Matern, Michael Shy, David Herrmann, Matthew Schultz

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100881- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442400027X; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/37ceeccdda214b838c8e8237762a9488

المؤلفون: Iris Pantovich, Amy White, April Studinski, Weiyi Mu, Bonnie Kaas, Matthew Bower, Gisele Pino, Dawn Peck, Kyle Salsbery, Emily Lauer, Angela Pickart, Kandelaria Rumilla, Wei Shen, Zhiyv Niu, Patricia Hall, Matthew Schultz, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Ralitza Gavrilova, Devin Oglesbee

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100880- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424000268; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/3ae0b3dc15f34836bc7a224831b13af6

المؤلفون: Zinandre Stander, William Laxen, Perry Loken, Amy White, Patricia Hall, Matthew Schultz, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Silvia Tortorelli

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100904- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424000505; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/56f50773330d4736863406bcb27c1bba

المؤلفون: Leah A. Swanson, MD, Freyr Johannsson, PhD, Silvia Tortorelli, MD, PhD, Cecilia Arana Yi, MD, MSHS, Surbhi Shah, MBBS, MD

المصدر: JAAD Case Reports, Vol 32, Iss , Pp 44-47 (2023)

مصطلحات موضوعية: acquired erythropoietic uroporphyria, congenital erythropoietic porphyria, erythropoietic uroporphyria associated with myeloid neoplasm, photodermatoses, porphyria, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352512622005380; https://doaj.org/toc/2352-5126

URL الوصول: https://doaj.org/article/f74b285900174187bee0d74d2be33380

المؤلفون: Dayebgadoh Gerald, Silvia Tortorelli, Amy White, Dawn Peck, Gisele Pino, April Studinski, Jason Eckerman, Bimal Chaudhari, Betsy Schmalz, Lance Rodan, Angela Sun, Emily Shelkowitz, Matthew Schultz, Devin Oglesbee, Dimitar Gavrilov, Patricia Hall, Dietrich Matern

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100004- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423000043; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/67014a04d23645f199979537b529cca9

المؤلفون: Patricia Hall, Dawn Peck, Gisele Pino, April Studinski, Amy White, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Matthew Schultz, Silvia Tortorelli

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100028- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423000286; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/d4bc0db2432d4d1a8cabb2aed38ac3c3

المؤلفون: Zinandré Stander, Jessica Kraker, Silvia Tortorelli, Devin Oglesbee, John Chen, Lisa Schimmenti

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100047- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442300047X; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/b3714cc822be42169586faab43947833

المؤلفون: Rachel Wurth, Coleman Turgeon, Zinandré Stander, Dimitar Gavrilov, Patricia Hall, Dietrich Matern, Matthew Schultz, Silvia Tortorelli, Devin Oglesbee

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100739- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423007392; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/249b748bd6fd486da03e2a1c14abd0b8

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

المصدر: JIMD Reports, Vol 60, Iss 1, Pp 67-74 (2021)

مصطلحات موضوعية: glutaric acidemia, glutarylcarnitine, glutaryl‐CoA dehydrogenase, low excretor, newborn screening, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/3aa1ce10246a476c8e42827109fe6a4c

المؤلفون: Rachel Wurth, Coleman Turgeon, ZinandréStander, Dimitar Gavrilov, Patricia Hall, Dietrich Matern, Matthew Schultz, Silvia Tortorelli, Devin Oglesbee

المصدر: Journal of Clinical and Translational Science, Vol 7, Pp 109-109 (2023)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://www.cambridge.org/core/product/identifier/S2059866123004053/type/journal_article; https://doaj.org/toc/2059-8661

URL الوصول: https://doaj.org/article/87effbfd94624395a7147310246b69b6

المؤلفون: Hao Tang, Jamie Matteson, Piero Rinaldo, Silvia Tortorelli, Robert Currier, Stanley Sciortino

المصدر: International Journal of Neonatal Screening, Vol 6, Iss 3, p 62 (2020)

مصطلحات موضوعية: newborn screening, X-linked adrenoleukodystrophy, very long-chain fatty-acids, ATP binding cassette subfamily D member 1, variants of uncertain significance, confirmatory test, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/6/3/62; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/aaa90dbba1e8455f98433542b2eac03b

المؤلفون: Karen A. Sanders, Dimitar K. Gavrilov, Devin Oglesbee, Kimiyo M. Raymond, Silvia Tortorelli, John J. Hopwood, Fred Lorey, Ramanath Majumdar, Charles A. Kroll, Amber M. McDonald, Jean M. Lacey, Coleman T. Turgeon, Justin N. Tucker, Hao Tang, Robert Currier, Grazia Isaya, Piero Rinaldo, Dietrich Matern

المصدر: International Journal of Neonatal Screening, Vol 6, Iss 2, p 44 (2020)

مصطلحات موضوعية: newborn screening, Fabry disease, Gaucher disease, mucopolysaccharidosis type I, Pompe disease, tandem mass spectrometry, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/6/2/44; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/66e4a898e05e487fa194cc076302a01f

المؤلفون: Dimitar K. Gavrilov, Amy L. Piazza, Gisele Pino, Coleman Turgeon, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Piero Rinaldo

المصدر: International Journal of Neonatal Screening, Vol 6, Iss 2, p 33 (2020)

مصطلحات موضوعية: Collaborative Laboratory Integrated Reports (CLIR), false positive rate, newborn screening (NBS), second tier test (2TT), Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/6/2/33; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/904bd8ab02a84ef68fc73c50d401dd1e

المؤلفون: Dawn S. Peck, Jean M. Lacey, Amy L. White, Gisele Pino, April L. Studinski, Rachel Fisher, Ayesha Ahmad, Linda Spencer, Sarah Viall, Natalie Shallow, Amy Siemon, J. Austin Hamm, Brianna K. Murray, Kelly L. Jones, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Dietrich Matern, Piero Rinaldo, Silvia Tortorelli

المصدر: International Journal of Neonatal Screening, Vol 6, Iss 1, p 10 (2020)

مصطلحات موضوعية: newborn screening, mps i, second-tier testing, gags, biomarkers, postanalytical interpretation, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/6/1/10; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/d1951ec02fb74365a4d7fe391d671752

المؤلفون: Ann B. Moser, Richard O. Jones, Walter C. Hubbard, Silvia Tortorelli, Joseph J. Orsini, Michele Caggana, Beth H. Vogel, Gerald V. Raymond

المصدر: International Journal of Neonatal Screening, Vol 2, Iss 4, p 15 (2016)

مصطلحات موضوعية: newborn screening, X-linked adrenoleukodystrophy, adrenal insufficiency, hematopoietic cell transplantation, C26:0 lysophosphatidyl choline, dried blood spot, tandem mass spectrometry (LC-MS/MS), peroxisomal disorders, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.mdpi.com/2409-515X/2/4/15; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/b0bd0712af67421a8e14f4ceb3e7863e

المؤلفون: Justin Rosati, Jessica Johnson, Zinandre Stander, Amy White, Silvia Tortorelli, Diana Bailey, Chin‐To Fong, Bo Hoon Lee

المصدر: American Journal of Medical Genetics Part A. 191:842-845

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4048c55a49e8873b72afc4bf4d4fa745
https://doi.org/10.1002/ajmg.a.63076

المؤلفون: Cecile Riviere-Cazaux, Jean M Lacey, Lucas P Carlstrom, William J Laxen, Amanda Munoz-Casabella, Matthew D Hoplin, Samar Ikram, Abdullah Bin Zubair, Katherine M Andersen, Arthur E Warrington, Paul A Decker, Timothy J Kaufmann, Jian L Campian, Jeanette E Eckel-Passow, Sani H Kizilbash, Silvia Tortorelli, Terry C Burns

المصدر: medRxiv

مصطلحات موضوعية: Oncology, Surgery, Neurology (clinical), Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fe7c909c14104cb0444e6d8a2ca282f
https://doi.org/10.1093/noajnl/vdad061

المؤلفون: Jordanna Mora, Herbert L. Bonkovsky, Amy L. White, Raynah Lobo, Gary Spitzer, Silvia Tortorelli, Elizabeth L. Frank, Randolph M. Young, Karl E. Anderson, Denise Salazar, Mary Schloetter

المصدر: The American Journal of the Medical Sciences. 362:113-121

مصطلحات موضوعية: Acute hepatic porphyria, medicine.medical_specialty, Abdominal pain, Diagnostic methods, business.industry, Porphobilinogen Synthase, Biochemical diagnosis, General Medicine, Primary care, 030204 cardiovascular system & hematology, Physicians, Primary Care, Porphyrias, Hepatic, 03 medical and health sciences, 0302 clinical medicine, Practice Guidelines as Topic, medicine, Humans, 030212 general & internal medicine, Symptom onset, Differential diagnosis, medicine.symptom, Intensive care medicine, Urine sample, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54c885eaa7e3bc48715d44699a2a4691
https://doi.org/10.1016/j.amjms.2021.03.004