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1دورية أكاديمية
المؤلفون: Hannes Runheim, Maria Pettersson, Anna Hammarsjö, Ann Nordgren, Martin Henriksson, Anna Lindstrand, Lars-Åke Levin, Maria Johansson Soller
المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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2دورية أكاديمية
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
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3دورية أكاديمية
المؤلفون: Jennifer Hammond, Jasmijn E Klapwijk, Sam Riedijk, Stina Lou, Kelly E Ormond, Ida Vogel, Lisa Hui, Emma-Jane Sziepe, James Buchanan, Charlotta Ingvoldstad-Malmgren, Maria Johansson Soller, Eleanor Harding, Melissa Hill, Celine Lewis
المصدر: PLoS ONE, Vol 17, Iss 1, p e0261898 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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4دورية أكاديمية
المؤلفون: Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M. B. Carvalho, Malin Kvarnung, Giedre Grigelioniene, Britt-Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö, Patrik Georgii-Hemming, Erik Iwarsson, Maria Johansson-Soller, Kristina Lagerstedt-Robinson, Agne Lieden, Måns Magnusson, Marcel Martin, Helena Malmgren, Magnus Nordenskjöld, Ameli Norling, Ellika Sahlin, Henrik Stranneheim, Emma Tham, Josephine Wincent, Sofia Ygberg, Anna Wedell, Valtteri Wirta, Ann Nordgren, Johanna Lundin, Daniel Nilsson
المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-23 (2019)
مصطلحات موضوعية: Whole-genome sequencing, Intellectual disability, Monogenic disease, Copy number variation, Structural variation, Single nucleotide variant, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
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5
المؤلفون: Thoas Fioretos, Valtteri Wirta, Lucia Cavelier, Eva Berglund, Mikaela Friedman, Michael Akhras, Johan Botling, Hans Ehrencrona, Lars Engstrand, Gisela Helenius, Therese Fagerqvist, David Gisselsson, Sofia Gruvberger-Saal, Ulf Gyllensten, Markus Heidenblad, Kina Höglund, Bo Jacobsson, Maria Johansson, Åsa Johansson, Maria Johansson Soller, Maréne Landström, Pär Larsson, Lars-Åke Levin, Anna Lindstrand, Lovisa Lovmar, Anna Lyander, Malin Melin, Ann Nordgren, Gunnel Nordmark, Paula Mölling, Lars Palmqvist, Richard Palmqvist, Dirk Repsilber, Per Sikora, Bianca Stenmark, Peter Söderkvist, Henrik Stranneheim, Tobias Strid, Craig E. Wheelock, Mia Wadelius, Anna Wedell, Anders Edsjö, Richard Rosenquist
المصدر: Nature Medicine. 28:1980-1982
مصطلحات موضوعية: Sweden, General Medicine, Precision Medicine, Delivery of Health Care, General Biochemistry, Genetics and Molecular Biology
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6
المؤلفون: Kelly E. Ormond, Mahesh Choolani, Melissa Hill, Celine Lewis, Jennifer Hammond, Ida Vogel, Stina Lou, Sam Riedijk, Charlotta Ingvoldstad-Malmgren, Lisa Hui, Jasmijn E. Klapwijk, Emma Jane Szepe, Eleanor Harding, Maria Johansson Soller
المساهمون: Human genetics, Clinical Genetics
المصدر: Lewis, C, Hammond, J, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Szepe, E J, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Hill, M & Riedijk, S 2021, ' Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting : an international cross-sectional study with healthcare professionals ', Prenatal Diagnosis, vol. 41, no. 6, pp. 720-732 . https://doi.org/10.1002/pd.5932
Prenatal Diagnosis, 41(6), 720-732. John Wiley and Sons Ltd
Lewis, C, Hammond, J, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Szepe, E J, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Hill, M & Riedijk, S 2021, ' Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting : An international cross-sectional study with healthcare professionals ', Prenatal Diagnosis, vol. 41, no. 6, pp. 720-732 . https://doi.org/10.1002/pd.5932
Prenatal Diagnosis
Prenatal Diagnosis, 41(6), 720-732. John Wiley & Sons Ltd.مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Cross-sectional study, Denmark, Health Personnel, 030105 genetics & heredity, Interviews as Topic, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Exome Sequencing, medicine, Humans, Lack of knowledge, Uncertain significance, Genetics (clinical), Exome sequencing, Netherlands, Sweden, Singapore, 030219 obstetrics & reproductive medicine, Health professionals, Qualitative interviews, Australia, Uncertainty, Obstetrics and Gynecology, Prenatal Care, Original Articles, Microarray Analysis, United Kingdom, 3. Good health, Cross-Sectional Studies, Family medicine, Original Article, Female, Psychology, Healthcare providers, Healthcare system
وصف الملف: application/pdf
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7
المؤلفون: Charlotta Ingvoldstad Malmgren, Boris Chaumette, Lejla Pojskic, Kati Koido, Maria Johansson Soller, Kristiina Tammimies
المصدر: European Neuropsychopharmacology. 63:e271-e272
مصطلحات موضوعية: Pharmacology, Psychiatry and Mental health, Neurology, Pharmacology (medical), Neurology (clinical), Biological Psychiatry
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8
المؤلفون: Kati Koido, Charlotta Ingvoldstad-Malmgren, Lejla Pojskic, Maria Johansson Soller, Evelien Van Assche, Isabella Borg, Uffe Birk Jensen, null Members of EnGagE, Domenico Coviello, Marcella Rietschel, Maria Grigoroiu-Serbanescu, Andrew McQuillin, Franziska Degenhardt, Kristiina Tammimies, Boris Chaumette
المصدر: European Neuropsychopharmacology. 63:e314-e315
مصطلحات موضوعية: Pharmacology, Psychiatry and Mental health, Neurology, Pharmacology (medical), Neurology (clinical), Biological Psychiatry
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9
المؤلفون: Anna Lindstrand, Marlene Ek, Malin Kvarnung, Britt-Marie Anderlid, Erik Björck, Jonas Carlsten, Jesper Eisfeldt, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Hafdís T. Helgadóttir, Maritta Hellström-Pigg, Ekaterina Kuchinskaya, Kristina Lagerstedt-Robinson, Lars-Åke Levin, Agne Lieden, Hillevi Lindelöf, Helena Malmgren, Daniel Nilsson, Eva Svensson, Martin Paucar, Ellika Sahlin, Bianca Tesi, Emma Tham, Johanna Winberg, Max Winerdal, Josephine Wincent, Maria Johansson Soller, Maria Pettersson, Ann Nordgren
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 24(11)
مصطلحات موضوعية: Fragile X Mental Retardation Protein, Neurodevelopmental Disorders, Chromosomal microarray, Clinical diagnostics, FMR1 analysis, Genome sequencing, Intellectual disability, Intellectual Disability, Developmental Disabilities, Humans, Genetic Testing, Child, Microarray Analysis, Medical Genetics, Genetics (clinical), Medicinsk genetik, Pathology and Forensic Medicine
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4a49b485e0df1df3b66d4abe0ac506d
https://pubmed.ncbi.nlm.nih.gov/36066546 -
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المؤلفون: James Buchanan, Melissa Hill, Caroline M. Vass, Jennifer Hammond, Sam Riedijk, Jasmijn E. Klapwijk, Eleanor Harding, Stina Lou, Ida Vogel, Lisa Hui, Charlotta Ingvoldstad‐Malmgren, Maria Johansson Soller, Kelly E. Ormond, Mahesh Choolani, Qian Zheng, Lyn S. Chitty, Celine Lewis
المساهمون: Clinical Genetics, Human genetics
المصدر: Prenatal Diagnosis, 42 (7)
Buchanan, J, Hill, M, Vass, C M, Hammond, J, Riedijk, S, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Zheng, Q, Chitty, L S & Lewis, C 2022, ' Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey ', Prenatal Diagnosis, vol. 42, no. 7 . https://doi.org/10.1002/pd.6159
Prenatal Diagnosis, 42(7), 934-946. John Wiley & Sons Ltd.
Buchanan, J, Hill, M, Vass, C M, Hammond, J, Riedijk, S, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Zheng, Q, Chitty, L S & Lewis, C 2022, ' Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey ', Prenatal Diagnosis, vol. 42, no. 7, pp. 934-946 . https://doi.org/10.1002/pd.6159
Prenatal Diagnosis, 42(7), 934-946. John Wiley and Sons Ltdمصطلحات موضوعية: Pregnancy, Prenatal Diagnosis, Surveys and Questionnaires, Obstetrics, Gynecology and Reproductive Medicine, Humans, Obstetrics and Gynecology, Female, Patient Preference, Reproduktionsmedicin och gynekologi, Genetic Testing, Genomics, Choice Behavior, Genetics (clinical)
وصف الملف: application/application/pdf; application/pdf