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

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/24239a4e507a406db912b81371637d5d

المؤلفون: Mahya Dezfouli, Sofia Bergström, Lillemor Skattum, Hassan Abolhassani, Maja Neiman, Monireh Torabi-Rahvar, Clara Franco Jarava, Andrea Martin-Nalda, Juana M. Ferrer Balaguer, Charlotte A. Slade, Anja Roos, Luis M. Fernandez Pereira, Margarita López-Trascasa, Luis I. Gonzalez-Granado, Luis M. Allende-Martinez, Yumi Mizuno, Yusuke Yoshida, Vanda Friman, Åsa Lundgren, Asghar Aghamohammadi, Nima Rezaei, Manuel Hernández-Gonzalez, Ulrika von Döbeln, Lennart Truedsson, Toshiro Hara, Shigeaki Nonoyama, Jochen M. Schwenk, Peter Nilsson, Lennart Hammarström

المصدر: Frontiers in Immunology, Vol 11 (2020)

مصطلحات موضوعية: primary immunodeficiency, complement deficiencies, phagocytic disorders, presymptomatic diagnosis, newborn screening, dried blood spot, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2020.00455/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/f39438c83a124a7b99700d19394fcd89

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 3, p 59 (2021)

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

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/4d21b092903e41e79229b23837025062

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, Vol 6, Iss 2, p 42 (2020)

مصطلحات موضوعية: newborn screening, post-analytical evaluation, Collaborative Laboratory Integrated Reports (CLIR), tandem mass spectrometry, expanded screening, dried blood spots (DBS), Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/6/2/42; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/8f74b04e42a645e29c0998e60c0a8d1e

المؤلفون: Annika Ohlsson, Katarina Rehnholm, Kumar Shubham, Ulrika von Döbeln

المصدر: International Journal of Neonatal Screening, Vol 5, Iss 4, p 38 (2019)

مصطلحات موضوعية: glucose-6-phosphate dehydrogenase deficiency, newborn screening, mutations, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/5/4/38; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/b49163b951ff48d4861554655905462b

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: Lars Jungner, Ingmar Jungner, Martin Engvall, Ulrika von Döbeln

المصدر: International Journal of Neonatal Screening, Vol 3, Iss 3, p 23 (2017)

مصطلحات موضوعية: screening, pre-symptomatic, Jungner, biography, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/3/3/23; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/d7f0818e99704d0aa338d93d17170fb7

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

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/9c88f1e55c4c41d3835327cad3dd91b6

المؤلفون: Xiaoshan Zhou, Kristina Kannisto, Sophie Curbo, Ulrika von Döbeln, Kjell Hultenby, Sindra Isetun, Mats Gåfvels, Anna Karlsson

المصدر: PLoS ONE, Vol 8, Iss 3, p e58843 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3591375?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/9787da95e85c440cbb2d9352b7d0c161

المؤلفون: Stephan Borte, Magdalena Janzi, Qiang Pan-Hammarström, Ulrika von Döbeln, Lennart Nordvall, Jacek Winiarski, Anders Fasth, Lennart Hammarström

المصدر: PLoS ONE, Vol 7, Iss 8, p e43419 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22916257/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/d70bc6bcd6c94972a023d332c4b174cc

المؤلفون: Magdalena Janzi, Ronald Sjöberg, Jinghong Wan, Björn Fischler, Ulrika von Döbeln, Lourdes Isaac, Peter Nilsson, Lennart Hammarström

المصدر: PLoS ONE, Vol 4, Iss 4, p e5321 (2009)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2669175?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/0e27e9c0d6fe43b1ab48d301c83ba79f

المؤلفون: David M. S. Mchugh, Cynthia A. Cameron, Jose E. Abdenur, Mahera Abdulrahman, Ona Adair, Shahira Ahmed Al Nuaimi, Henrik Ahlman, Jennifer J. Allen, Shaina Archer, Sylvia Au, Christiane Auray Blais, Mei Baker, Fiona Bamforth, Kinga Beckmann, Gessi Bentz Pino, Stanton L. Berberich, Robert Binard, François Boemer, Jim Bonham, Nancy N. Breen, Sandra C. Bryant, Michele Caggana, S. Graham Caldwell, Marta Camilot, Carlene Campbell, Rohit Cariappa, Clover Carlisle, Ubaldo Caruso, Michela Cassanello, Ane Miren Castilla, D. E. C. Ramos, Pranesh Chakraborty, Ram Chandrasekar, Alfredo Chardon Ramos, David Cheillan, Yin Hsiu Chien, Thomas A. Childs, Petr Chrastina, Yuri Cleverthon Sica, D. E. Jac Juan, Maria Elena Colandre, Veronica Cornejo Espinoza, Gaetano Corso, Robert Currier, Denis Cyr, Noemi Czuczy, Oceania D'Apolito, Tim Davis, Monique G. De Sain Van Der Velden, Carmen Delgado Pecellin, Iole Maria Di Gangi, Cristina Maria Di Stefano, Yannis Dotsikas, Melanie Downing, Stephen M. Downs, Bonifacio Dy, Mark Dymerski, Inmaculada Rueda, Bert Elvers, Roger Eaton, Barbara M. Eckerd, Fatma El Mougy, Sarah Eroh, Mercedes Espada, Catherine Evans, Sandy Fawbush, Kristel F. Fijolek, Lawrence Fisher, Leifur Franzson, Dianne M. Frazier, Luciana R. C. Garcia, Maria Sierra García Valdecasas Bermejo, Dimitar Gavrilov, Rosemarie Gerace, Giuseppe Giordano, Yolanda González Irazabal, Lawrence C. Greed, Robert Grier, Elyse Grycki, Xuefan Gu, Fizza Gulamali Majid, Arthur F. Hagar, Lianshu Han, W. Harry Hannon, Christa Haslip, Fayza Abdelhamid Hassan, Miao He, Amy Hietala, Leslie Himstedt, Gary L. Hoffman, William Hoffman, Philis Hoggatt, Patrick V. Hopkins, David M. Hougaard, Kerie Hughes, Patricia R. Hunt, Wuh Liang Hwu, June Hynes, Isabel Ibarra Gonzalez, Cindy A. Ingham, Maria Ivanova, Ward B. Jacox, C. John, John P. Johnson, Jón J. Jonsson, Eszter Karg, David Kasper, Brenda Klopper, Dimitris Katakouzinos, Issam Khneisser, Detlef Knoll, Hirinori Kobayashi, Ronald Koneski, Viktor Kozich, Rasoul Kouapei, Dirk Kohlmueller, Ivo Kremensky, Giancarlo La Marca, Marcia Lavochkin, Soo Youn Lee, Denis C. Lehotay, Aida Lemes, Joyce Lepage, Barbara Lesko, Barry Lewis, Carol Lim, Sharon Linard, Martin Lindner, Michele A. Lloyd Puryear, Fred Lorey, Yannis L. Loukas, Julie Luedtke, Neil Maffitt, J. Fergall Magee, Adrienne Manning, Shawn Manos, Sandrine Marie, Sonia Marchezi Hadachi, Gregg Marquardt, Stephen J. Martin, Dietrich Matern, S. K. M. Gibson, Philip Mayne, Tonya D. Mccallister, Mark Mccann, Julie Mcclure, James J. Mcgill, Christine D. Mckeever, Barbara Mcneilly, Mark A. Morrissey, Paraskevi Moutsatsou, Eleanor A. Mulcahy, Dimitris Nikoloudis, Bent Norgaard Pedersen, Devin Oglesbee, Mariusz Oltarzewski, Daniela Ombrone, Jelili Ojodu, Vagelis Papakonstantinou, Sherly Pardo Reoyo, Hyung Doo Park, Marzia Pasquali, Elisabetta Pasquini, Pallavi Patel, Kenneth A. Pass, Colleen Peterson, Rolf D. Pettersen, James J. Pitt, Sherry Poh, Arnold Pollak, Cory Porter, Philip A. Poston, Ricky W. Price, Cecilia Queijo, Jonessy Quesada, Edward Randell, Enzo Ranieri, Kimiyo Raymond, John E. Reddic, Alejandra Reuben, Charla Ricciardi, Piero Rinaldo, Jeff D. Rivera, Alicia Roberts, Hugo Rocha, Geraldine Roche, Cheryl Rochman Greenberg, Jose Maria Egea Mellado, Maria Jesús Juan Fita, Consuelo Ruiz, Margherita Ruoppolo, S. Lane Rutledge, Euijung Ryu, Christine Saban, Inderneel Sahai, Maria Isabel Salazar Garcia Blanco, Pedro Santiago Borrero, Andrea Schenone, Roland Schoos, Barb Schweitzer, Patricia Scott, Margretta R. Seashore, Mary A. Seeterlin, David E. Sesser, Darrin W. Sevier, Scott M. Shone, Graham Sinclair, Victor A. Skrinska, Eleanor L. Stanley, Erin T. Strovel, A. L. S. Jones, Sherlykutty Sunny, Zoltan Takats, Tijen Tanyalcin, Francesca Teofoli, J. Robert Thompson, Kathy Tomashitis, Mouseline Torquado Domingos, Jasmin Torres, Rosario Torres, Silvia Tortorelli, Sandor Turi, Kimberley Turner, Nick Tzanakos, Alf G. Valiente, Hillary Vallance, Marcela Vela Amieva, Laura Vilarinho, Ulrika Von Dobeln, Marie Francoise Vincent, B. Chris Vorster, Michael S. Watson, Dianne Webster, Sheila Weiss, Bridget Wilcken, Veronica Wiley, Sharon K. Williams, Sharon A. Willis, Michael Woontner, Katherine Wright, Raquel Yahyaoui, Seiji Yamaguchi, Melissa Yssel, Wendy M. Zakowicz, ANTONOZZI, Italo, CARDUCCI, Claudia

المساهمون: David M. S., Mchugh, Cynthia A., Cameron, Jose E., Abdenur, Mahera, Abdulrahman, Ona, Adair, Shahira Ahmed Al, Nuaimi, Henrik, Ahlman, Jennifer J., Allen, Antonozzi, Italo, Shaina, Archer, Sylvia, Au, Christiane Auray, Blai, Mei, Baker, Fiona, Bamforth, Kinga, Beckmann, Gessi Bentz, Pino, Stanton L., Berberich, Robert, Binard, François, Boemer, Jim, Bonham, Nancy N., Breen, Sandra C., Bryant, Michele, Caggana, S., Graham Caldwell, Marta, Camilot, Carlene, Campbell, Carducci, Claudia, Rohit, Cariappa, Clover, Carlisle, Ubaldo, Caruso, Michela, Cassanello, Ane Miren, Castilla, D. E. C., Ramo, Pranesh, Chakraborty, Ram, Chandrasekar, Alfredo Chardon, Ramo, David, Cheillan, Yin Hsiu, Chien, Thomas A., Child, Petr, Chrastina, Yuri Cleverthon, Sica, D. E., Jac Juan, Maria Elena, Colandre, Veronica Cornejo, Espinoza, Gaetano, Corso, Robert, Currier, Denis, Cyr, Noemi, Czuczy, Oceania, D'Apolito, Tim, Davi, Monique G., De Sain Van Der Velden, Carmen Delgado, Pecellin, Iole Maria Di, Gangi, Cristina Maria Di, Stefano, Yannis, Dotsika, Melanie, Downing, Stephen M., Down, Bonifacio, Dy, Mark, Dymerski, Inmaculada, Rueda, Bert, Elver, Roger, Eaton, Barbara M., Eckerd, Fatma El, Mougy, Sarah, Eroh, Mercedes, Espada, Catherine, Evan, Sandy, Fawbush, Kristel F., Fijolek, Lawrence, Fisher, Leifur, Franzson, Dianne M., Frazier, Luciana R. C., Garcia, Maria Sierra García Valdecasas, Bermejo, Dimitar, Gavrilov, Rosemarie, Gerace, Giuseppe, Giordano, Yolanda González, Irazabal, Lawrence C., Greed, Robert, Grier, Elyse, Grycki, Xuefan, Gu, Fizza Gulamali, Majid, Arthur F., Hagar, Lianshu, Han, W., Harry Hannon, Christa, Haslip, Fayza Abdelhamid, Hassan, Miao, He, Amy, Hietala, Leslie, Himstedt, Gary L., Hoffman, William, Hoffman, Philis, Hoggatt, Patrick V., Hopkin, David M., Hougaard, Kerie, Hughe, Patricia R., Hunt, Wuh Liang, Hwu, June, Hyne

مصطلحات موضوعية: tandem mass spectrometry, amino acid, newborn screening, inborn errors of metabolism, acylcarnitines

Relation: info:eu-repo/semantics/altIdentifier/pmid/21325949; info:eu-repo/semantics/altIdentifier/wos/WOS:000287694800013; volume:13; issue:3; firstpage:230; lastpage:254; numberofpages:25; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11573/402899; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79952194543; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000287694800013&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a; http://www.scopus.com/inward/record.url?eid=2-s2.0-79952194543&partnerID=65&md5=eca8ccaff4bac96bc31e88c618729353

الاتاحة: http://hdl.handle.net/11573/402899
https://doi.org/10.1097/gim.0b013e31820d5e67
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000287694800013&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a
http://www.scopus.com/inward/record.url?eid=2-s2.0-79952194543&partnerID=65&md5=eca8ccaff4bac96bc31e88c618729353

المؤلفون: Claes Guthenberg, Astrid Thilén, Agne Larsson, Ulrika von Dobeln, L. Hagenfeldt

المصدر: Screening. 1:159-166

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, education.field_of_study, business.industry, Population, Gestational age, medicine.disease, Screening Result, Predictive value, Salt loss, Pediatrics, Perinatology and Child Health, Medicine, Gestation, Congenital adrenal hyperplasia, False positive rate, business, education

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7cd493219bb0201ab0d7fc616d5e8348
https://doi.org/10.1016/0925-6164(92)90011-s

المؤلفون: Ulrika von Dobeln, Astrid Thilén, Agne Larsson, Claes Guthenberg, L. Hagenfeldt

المصدر: Pediatric Research. 32:617-617

مصطلحات موضوعية: education.field_of_study, Pediatrics, medicine.medical_specialty, Screening test, business.industry, Population, nutritional and metabolic diseases, Gestational age, medicine.disease, Predictive value, Salt loss, Pediatrics, Perinatology and Child Health, medicine, Congenital adrenal hyperplasia, Positive test, False positive rate, education, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a33b1fd2912bae99f3a22dccabb48b7a
https://doi.org/10.1203/00006450-199211000-00074

المؤلفون: Songya Pang, Anastasia Clark, Eurico Camargo Neto, Roberto Giugliani, Heather Dean, Jeremy Winter, Jean-Louis Dhondt, J.P Farriaux, Annette Graters, Emanuele Cacciari, Antonio Balsamo, Sandro Piazzi, Seizo Suwa, Yusuhiro Kuroda, Yoshiro Wada, Hiroshi Naruse, T Kizaki, N Ichihara, Osamu Arai, S Harada, Kenji Fujieda, Nobuo Matsuura, Satoshi Kusuda, Masaru Fukushi, Yoshikiyo Mizushima, Y Kikuti, Takio Yoyoura, Sumitaka Saisho, Kazukiko Shimozawa, Masaru Matsumoto, Dianne Webster, Laura Vilarinho, A.M Wallace, Iñaki Eguileor, I Marzana, Elena Dulin Iñiguez, A Fernandez Sanchez, C Gonzalez Gallego, Lars Hagenfeldt, Claes Guthenberg, Ulrika von Dobeln, Astrid Thilen, Agne Larsson, T Torresani, Christy LeBlond, Christine Papadea, Frank Rumph, Willie Craft, Sydney Kling, Eva Tsalikian, Jennifer Cook, J Getchell, J Susanin, Marvin Mitchell, Lindsay Hofman, Edwin Naylor, Bradford Therrell, Lois Brown, Linda Prentice, Michael Glass, Sheila Neier

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Newborn screening, Amniotic fluid, Obstetrics, business.industry, nutritional and metabolic diseases, Adrenal crisis, Prenatal diagnosis, urologic and male genital diseases, medicine.disease, Low birth weight, medicine.anatomical_structure, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Pediatrics, Perinatology and Child Health, medicine, Chorionic villi, Congenital adrenal hyperplasia, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::883667a276eab67ffc93e0cf430b6ad6
http://www.scopus.com/inward/record.url?eid=2-s2.0-0027317014&partnerID=MN8TOARS