المؤلفون: Titus Schlinzig, Stefan Johansson, Olof Stephansson, Lennart Hammarström, Rolf H Zetterström, Ulrika von Döbeln, Sven Cnattingius, Mikael Norman

المصدر: PLoS ONE, Vol 12, Iss 9, p e0184748 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5599043?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/e997f52cd7ca4d7dbda1ff7e230fa731

المؤلفون: Christofer Äng, Rolf H. Zetterström, Kim Ramme, Emma Axelsen, Per Marits, Mikael Sundin

المصدر: Frontiers in Immunology, Vol 14 (2023)

مصطلحات موضوعية: SCID, IKZF1, Ikaros, newborn screening, CID, HCT (hematopoietic cell transplant), Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1257581/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/1c268ad9a06d468c851c7b2051401294

المؤلفون: David Olsson, Michela Barbaro, Charlotte Haglind, Maria Halldin, Svetlana Lajic, Sara Tucci, Rolf H. Zetterström, Anna Nordenström

المصدر: JIMD Reports, Vol 63, Iss 2, Pp 181-190 (2022)

مصطلحات موضوعية: clinical outcome, newborn screening, Sweden, very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD), 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/8328a7b424524de6862a3d3efb445668

المؤلفون: Matej Mlinaric, James R. Bonham, Viktor Kožich, Stefan Kölker, Ondrej Majek, Tadej Battelino, Ana Drole Torkar, Vanesa Koracin, Dasa Perko, Ziga Iztok Remec, Barbka Repic Lampret, Maurizio Scarpa, Peter C. J. I. Schielen, Rolf H. Zetterström, Urh Groselj

المصدر: International Journal of Neonatal Screening; Volume 9; Issue 2; Pages: 21

مصطلحات موضوعية: newborn screening, COVID-19, NBS, contingency plan, pandemic, telemedicine, dried blood spot

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns9020021

الاتاحة: https://doi.org/10.3390/ijns9020021

المؤلفون: Jaka Sikonja, Urh Groselj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, Rolf H. Zetterström, Viktor Kožich, Yann Le Cam, Gulcin Gumus, Valentina Bottarelli, Mirjam van der Burg, Eugenie Dekkers, Tadej Battelino, Johan Prevot, Peter C. J. I. Schielen, James R. Bonham

المصدر: International Journal of Neonatal Screening; Volume 8; Issue 2; Pages: 31

مصطلحات موضوعية: newborn screening, NBS, rare diseases, access inequality, Europe, Slovenia, meeting

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns8020031

الاتاحة: https://doi.org/10.3390/ijns8020031

المؤلفون: Henrik Stranneheim (133991), Kristina Lagerstedt-Robinson (3556532), Måns Magnusson (299930), Malin Kvarnung (7420955), Daniel Nilsson (29307), Nicole Lesko (3939536), Martin Engvall (10315771), Britt-Marie Anderlid (213968), Henrik Arnell (440877), Carolina Backman Johansson (10315774), Michela Barbaro (10315777), Erik Björck (3561623), Helene Bruhn (3939542), Jesper Eisfeldt (5007209), Christoph Freyer (106082), Giedre Grigelioniene (68212), Peter Gustavsson (118726), Anna Hammarsjö (492520), Maritta Hellström-Pigg (10315780), Erik Iwarsson (507949), Anders Jemt (687167), Mikael Laaksonen (10315783), Sara Lind Enoksson (10315786), Helena Malmgren (492519), Karin Naess (10315789), Magnus Nordenskjöld (118610), Mikael Oscarson (10315792), Maria Pettersson (764125), Chiara Rasi (344227), Adam Rosenbaum (9075435), Ellika Sahlin (507944), Eliane Sardh (179840), Tommy Stödberg (10315795), Bianca Tesi (3556535), Emma Tham (221851), Håkan Thonberg (6730), Virpi Töhönen (249771), Ulrika von Döbeln (95618), Daphne Vassiliou (10315798), Sofie Vonlanthen (10315801), Ann-Charlotte Wikström (187096), Josephine Wincent (2794045), Ola Winqvist (86551), Anna Wredenberg (106069), Sofia Ygberg (7829714), Rolf H. Zetterström (4437112), Per Marits (86548), Maria Johansson Soller (10315804), Ann Nordgren (507950), Valtteri Wirta (7590), Anna Lindstrand (764128), Anna Wedell (10315807)

مصطلحات موضوعية: Genetics, Whole genome sequencing, Monogenic disease, Single nucleotide variant, Clinical diagnostics

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Integration_of_whole_genome_sequencing_into_a_healthcare_setting_high_diagnostic_rates_across_multiple_clinical_entities_in_3219_rare_disease_patients/14228410

الاتاحة: https://doi.org/10.6084/m9.figshare.14228410.v1

المؤلفون: Alexander D. Rowe, Stephanie D. Stoway, Henrik Åhlman, Vaneet Arora, Michele Caggana, Anna Fornari, Arthur Hagar, Patricia L. Hall, Gregg C. Marquardt, Bobby J. Miller, Christopher Nixon, Andrew P. Norgan, Joseph J. Orsini, Rolf D. Pettersen, Amy L. Piazza, Neil R. Schubauer, Amy C. Smith, Hao Tang, Norma P. Tavakoli, Sainan Wei, Rolf H. Zetterström, Robert J. Currier, Lars Mørkrid, Piero Rinaldo

المصدر: International Journal of Neonatal Screening; Volume 7; Issue 2; Pages: 23

مصطلحات موضوعية: bioinformatics, Collaborative Laboratory Integrated Reports (CLIR), dual scatter plot, congenital hypothyroidism, covariate-adjusted reference intervals, false positives, newborn screening, single condition tool, thyroid-stimulating hormone, thyroxine

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns7020023

الاتاحة: https://doi.org/10.3390/ijns7020023

المؤلفون: J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda, Peter C.J.I. Schielen

المصدر: International Journal of Neonatal Screening; Volume 7; Issue 1; Pages: 15

مصطلحات موضوعية: neonatal screening, newborn screening, congenital metabolic disorders, rare diseases, dried blood spot screening, congenital endocrine disorders, International Society for Neonatal Screening, ISNS, public health

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns7010015

الاتاحة: https://doi.org/10.3390/ijns7010015

المؤلفون: Christina Göngrich, Olov Ekwall, Mikael Sundin, Nicholas Brodszki, Anders Fasth, Per Marits, Sam Dysting, Susanne Jonsson, Michela Barbaro, Anna Wedell, Ulrika von Döbeln, Rolf H. Zetterström

المصدر: International Journal of Neonatal Screening, Vol 7, Iss 59, p 59 (2021)

مصطلحات موضوعية: SCID, neonatal dried blood spot screening, TREC, KREC, sensitivity, specificity, Pediatrics, RJ1-570

Relation: https://www.mdpi.com/2409-515X/7/3/59; https://doaj.org/toc/2409-515X; https://doaj.org/article/4d21b092903e41e79229b23837025062

الاتاحة: https://doi.org/10.3390/ijns7030059
https://doaj.org/article/4d21b092903e41e79229b23837025062

المؤلفون: Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt-Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, Karin Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann-Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf H. Zetterström, Per Marits, Maria Johansson Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell

المصدر: Genome Medicine, Vol 13, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Whole genome sequencing, Monogenic disease, Single nucleotide variant, Clinical diagnostics, Medicine, Genetics, QH426-470

Relation: https://doi.org/10.1186/s13073-021-00855-5; https://doaj.org/toc/1756-994X; https://doaj.org/article/24239a4e507a406db912b81371637d5d

الاتاحة: https://doi.org/10.1186/s13073-021-00855-5
https://doaj.org/article/24239a4e507a406db912b81371637d5d

المؤلفون: Rolf H. Zetterström, Leif Karlsson, Henrik Falhammar, Svetlana Lajic, Anna Nordenström

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 3; Pages: 71

مصطلحات موضوعية: neonatal screening, congenital adrenal hyperplasia, CAH, 21-hydroxylase deficiency, CYP21A2, dried blood spots, DBS, positive predictive value, PPV

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6030071

الاتاحة: https://doi.org/10.3390/ijns6030071

المؤلفون: Svetlana Lajic, Leif Karlsson, Rolf H. Zetterström, Henrik Falhammar, Anna Nordenström

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 3; Pages: 68

مصطلحات موضوعية: neonatal screening, congenital adrenal hyperplasia, CAH, 21-hydroxylase deficiency, long-term outcome

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6030068

الاتاحة: https://doi.org/10.3390/ijns6030068

المؤلفون: Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, Jens Jørgensen, Erle Kristensen, Gunnþórunn Gunnarsdottir, Eirik Vangsøy Hansen, Janne Strand, Emma Lundman, Sacha Ferdinandusse, Cathrin Lytomt Salvador, Berit Woldseth, Yngve T. Bliksrud, Carlos Sagredo, Øyvind E. Olsen, Mona C. Berge, Anette Kjoshagen Trømborg, Anders Ziegler, Jin Hui Zhang, Linda Karlsen Sørgjerd, Mari Ytre-Arne, Silje Hogner, Siv M. Løvoll, Mette R. Kløvstad Olavsen, Dionne Navarrete, Hege J. Gaup, Rina Lilje, Rolf H. Zetterström, Asbjørg Stray-Pedersen, Terje Rootwelt, Piero Rinaldo, Alexander D. Rowe, Rolf D. Pettersen

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 3; Pages: 51

مصطلحات موضوعية: newborn screening, dried blood spots, cut-off values, CLIR, second-tier DNA testing, outcome

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6030051

الاتاحة: https://doi.org/10.3390/ijns6030051

المؤلفون: Lene Sörensen, Ulrika von Döbeln, Henrik Åhlman, Annika Ohlsson, Martin Engvall, Karin Naess, Carolina Backman-Johansson, Yvonne Nordqvist, Anna Wedell, Rolf H. Zetterström

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 2; Pages: 42

مصطلحات موضوعية: newborn screening, post-analytical evaluation, Collaborative Laboratory Integrated Reports (CLIR), tandem mass spectrometry, expanded screening, dried blood spots (DBS), positive predictive value (PPV)

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6020042

الاتاحة: https://doi.org/10.3390/ijns6020042

المؤلفون: Mattias Andréasson, Rolf H. Zetterström, Ulrika von Döbeln, Anna Wedell, Per Svenningsson

المصدر: International Journal of Molecular Sciences; Volume 20; Issue 11; Pages: 2631

مصطلحات موضوعية: methylmalonic acidemia, methylmalonic acid, methyl-CoA epimerase, MCEE gene, cobalamin

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms20112631

الاتاحة: https://doi.org/10.3390/ijms20112631

المؤلفون: Rolf H. Zetterström, Michela Barbaro, Annika Ohlsson, Stephan Borte, Susanne Jonsson, Jacek Winiarski, Ulrika von Döbeln, Lennart Hammarström

المصدر: International Journal of Neonatal Screening, Vol 3, Iss 2, p 11 (2017)

مصطلحات موضوعية: severe combined immunodeficiency (SCID), primary immune deficiencies (PID), T-cell receptor excision circle (TREC), kappa-deleting recombination excision circle (KREC), newborn screening, neonatal screening, azathioprine, tacrolimus, Bruton, inborn errors of metabolism, Pediatrics, RJ1-570

Relation: http://www.mdpi.com/2409-515X/3/2/11; https://doaj.org/toc/2409-515X; https://doaj.org/article/9c88f1e55c4c41d3835327cad3dd91b6

الاتاحة: https://doi.org/10.3390/ijns3020011
https://doaj.org/article/9c88f1e55c4c41d3835327cad3dd91b6

المؤلفون: Kajsa Appelberg, Lene Sörensen, Rolf H. Zetterström, Martin Henriksson, Anna Wedell, Lars-Åke Levin

المصدر: The Journal of pediatrics.

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1a681a39e04f09be3d34548b5b691b8
https://pubmed.ncbi.nlm.nih.gov/36495999

المؤلفون: Judith A. Gudmundsdottir, Sigridur Thorgeirsdottir, Veroniqa Lundbäck, Christina Göngrich, Jenny Lingman Framme, Erik Kindgren, Karin Rydenman, Bjorn Runar Ludviksson, Helga Bjarnadottir, Saga Runarsdottir, Staffan Nilsson, Rolf H. Zetterström, Olov Ekwall, Susanne Lindgren

المصدر: Clinical Immunology. 249:109277

مصطلحات موضوعية: Immunology, Immunology and Allergy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::db856e1eb8a6c1aa6dc1eb6c02a0cf72
https://doi.org/10.1016/j.clim.2023.109277

المؤلفون: Jenny Lingman Framme, Christina Lundqvist, Anna-Carin Lundell, Pauline A. van Schouwenburg, Andri L. Lemarquis, Karolina Thörn, Susanne Lindgren, Judith Gudmundsdottir, Vanja Lundberg, Sofie Degerman, Rolf H. Zetterström, Stephan Borte, Lennart Hammarström, Esbjörn Telemo, Magnus Hultdin, Mirjam van der Burg, Anders Fasth, Sólveig Oskarsdóttir, Olov Ekwall

المصدر: Journal of Clinical Immunology, 42, 618-633. SPRINGER/PLENUM PUBLISHERS

مصطلحات موضوعية: long-term outcome, 22q11 Deletion Syndrome, Adolescent, newborn screening, Immunology, Infant, Newborn, Receptors, Antigen, T-Cell, Immunology in the medical area, DNA, severe combined immunodeficiency, 2 deletion syndrome, 22q11, T lymphopenia, Neonatal Screening, Lymphopenia, 22q11.2 deletion syndrome, Immunologi inom det medicinska området, Humans, Immunology and Allergy, TREC, DiGeorge syndrome, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56a75d5bd7e741da61caee4f8e2ce768
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-192261

المؤلفون: David Olsson, Michela Barbaro, Charlotte Haglind, Maria Halldin, Svetlana Lajic, Sara Tucci, Rolf H. Zetterström, Anna Nordenström

المصدر: JIMD reports. 63(2)

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine, Biochemistry, Genetics and Molecular Biology (miscellaneous)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b1bb19789a3a73bc3c2820e5c4bef74
https://pubmed.ncbi.nlm.nih.gov/35281659