المؤلفون: Davut Pehlivan, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J. Eisfeldt, Maria Pettersson, Lynn Liu, Marwan S. Shinawi, Virginia E. Kimonis, Wojciech Wiszniewski, Kyle Mckenzie, Timo Roser, Angela M. Vianna-Morgante, Alberto S. Cornier, Ahmed Abdelmoity, James P. Hwang, Shalini N. Jhangiani, Donna M. Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G. Glaze, Jawid M. Fatih, Richard A. Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J. Sedlazeck, James R. Lupski, Huda Y. Zoghbi, Claudia M. B. Carvalho

المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-23 (2024)

مصطلحات موضوعية: MECP2 duplication syndrome, MRXSL, Tandem duplication, Terminal duplication, Clinical severity, Survival, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/3322a058f6454c1fa87047287255d6fb

المؤلفون: Marlene Ek, Malin Kvarnung, Maria Pettersson, Maria Johansson Soller, Britt-Marie Anderlid, Håkan Thonberg, Jesper Eisfeldt, Anna Lindstrand

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: Inversion, Short-read whole genome sequencing, Adaptive long-read sequencing, Transcriptome sequencing, MEIS2, Gene disruption, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/286c414a05a3478b8b1e65deb41fa8be

المؤلفون: Oskar Johansson, Maria Pettersson, Torben Bauer

المصدر: Water Policy, Vol 26, Iss 4, Pp 395-409 (2024)

مصطلحات موضوعية: circular economy, environmental law, fertilizer, interviews, waste-to-resource, River, lake, and water-supply engineering (General), TC401-506

وصف الملف: electronic resource

Relation: http://wpol.iwaponline.com/content/26/4/395; https://doaj.org/toc/1366-7017; https://doaj.org/toc/1996-9759

URL الوصول: https://doaj.org/article/232fb4f94bfc4f2b9f59eb29918d748a

المؤلفون: Jakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, Marlene Ek, Christopher M. Grochowski, Ming Yin Lun, Alex Hastie, Susanne Rudolph, Sigrid Fuchs, Kornelia Neveling, Maja Hempel, Alexander Hoischen, Maria Pettersson, Claudia M.B. Carvalho, Jesper Eisfeldt, Anna Lindstrand

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101863- (2024)

مصطلحات موضوعية: Chromosome 21, Complex genomic rearrangement, Down syndrome critical region, Long-read genome sequencing, Optical genome mapping, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424010094; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/70b601806d7c45679087a28418058b52

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/ed547b24e60847ae8691c1c9643cc7ce

المؤلفون: Alexandra Garza Flores, Ida Nordgren, Maria Pettersson, Dora Dias-Santagata, Daniel Nilsson, Anna Hammarsjö, Anna Lindstrand, Dominyka Batkovskyte, Janey Wiggs, David S. Walton, Paula Goldenberg, Jesper Eisfeldt, Angela E. Lin, Ralph S. Lachman, Gen Nishimura, Giedre Grigelioniene

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: FOXC1, Axenfeld-Rieger Syndrome, De Hauwere Syndrome, skeletal anomalies, genome sequencing, case report, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1174046/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/4c781b29b14b4f2ca44d5bf090231ae4

المؤلفون: Marlene Ek, Daniel Nilsson, Martin Engvall, Helena Malmgren, Håkan Thonberg, Maria Pettersson, Britt-Marie Anderlid, Anna Hammarsjö, Hafdis T. Helgadottir, Snjolaug Arnardottir, Karin Naess, Inger Nennesmo, Martin Paucar, Helgi Thor Hjartarson, Rayomand Press, Göran Solders, Thomas Sejersen, Anna Lindstrand, Malin Kvarnung

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: neuromuscular disorders, genome sequencing, single nucleotide variant, structural variant, repeat expansion, ataxia, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1170005/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/279974e3e659446ebf76b3c16f6f97bf

المؤلفون: Eini Westenius, Maria Pettersson, Erik Björck

المصدر: Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Abnormal karyotype, Amniocentesis, Chorionic villi sampling, Chromosome aberrations, Confined placental mosaicism, Isochromosomes, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8166

URL الوصول: https://doaj.org/article/ce37dc9dd1244c1c8174ffec0c3246e7

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: Max Winerdal, Eini Westenius, Michaela Granfors, Maria Pettersson, Erik Iwarsson

المصدر: Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-5 (2020)

مصطلحات موضوعية: Mosaicism, Placenta, Chorionic villus sampling, Amniocentesis, Chromosome fragile site, Duchenne muscular dystrophy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8166

URL الوصول: https://doaj.org/article/2797d56248004a70a46f2aa2f51c3463

المؤلفون: Jakob Schuy, Jesper Eisfeldt, Maria Pettersson, Niloofar Shahrokhshahi, Mohsen Moslem, Daniel Nilsson, Niklas Dahl, Mansoureh Shahsavani, Anna Falk, Anna Lindstrand

المصدر: Frontiers in Genetics, Vol 12 (2022)

مصطلحات موضوعية: ring chromosome 21, trisomy 21, RNA-Seq, induced pluripotent stem cells, neuroepithelial stem cells, microarray, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.803683/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/ec2798e4487b4131adc12e3f35f1b053

المؤلفون: Raquel Vaz, Josephine Wincent, Najla Elfissi, Kristina Rosengren Forsblad, Maria Pettersson, Karin Naess, Anna Wedell, Anna Wredenberg, Anna Lindstrand, Sofia Ygberg

المصدر: Biomedicines, Vol 10, Iss 12, p 3171 (2022)

مصطلحات موضوعية: pyruvate dehydrogenase kinase, epilepsy, neurodevelopmental delay, zebrafish, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/10/12/3171; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/125bbf71ff6041619c05206940f0d9f0

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

Relation: http://link.springer.com/article/10.1186/s13073-019-0675-1; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/494c641092944226bbd8ae351521590b

المؤلفون: Kristina Ek, Susana Goytia, Carina Lundmark, Soili Nysten-Haarala, Maria Pettersson, Annica Sandström, Johanna Söderasp, Jesper Stage

المصدر: Research Ideas and Outcomes, Vol 3, Iss , Pp 1-10 (2017)

مصطلحات موضوعية: hydropower, Sweden, water governance, water man, Science

وصف الملف: electronic resource

Relation: https://riojournal.com/article/21305/; https://riojournal.com/article/21305/download/pdf/; https://riojournal.com/article/21305/download/xml/; https://doaj.org/toc/2367-7163

URL الوصول: https://doaj.org/article/66e9d4eb0d04431c9b97591f44c56188

المؤلفون: Sara Dahl, Maria Pettersson, Jesper Eisfeldt, Anna Katharina Schröder, Ronny Wickström, Kristina Teär Fahnehjelm, Britt-Marie Anderlid, Anna Lindstrand

المصدر: PLoS ONE, Vol 15, Iss 2, p e0228622 (2020)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/7a79c2b9048648f2898001883f1e89c9

المؤلفون: Jesper Eisfeldt, Maria Pettersson, Francesco Vezzi, Josephine Wincent, Max Käller, Joel Gruselius, Daniel Nilsson, Elisabeth Syk Lundberg, Claudia M B Carvalho, Anna Lindstrand

المصدر: PLoS Genetics, Vol 15, Iss 2, p e1007858 (2019)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/3c47f5df33c0416d8db7fb2992acf964

المؤلفون: Lusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, Johanna Lundin, Daniel Nilsson, Josephine Wincent, Agne Lieden, Lovisa Lovmar, Jesper Ottosson, Jelena Gacic, Outi Mäkitie, Ann Nordgren, Francesco Vezzi, Valtteri Wirta, Max Käller, Tina Duelund Hjortshøj, Cathrine Jespersgaard, Rayan Houssari, Laura Pignata, Mads Bak, Niels Tommerup, Elisabeth Syk Lundberg, Zeynep Tümer, Anna Lindstrand

المصدر: PLoS Genetics, Vol 14, Iss 11, p e1007780 (2018)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/69ea9822f491409e90114bf9c70d2228

المؤلفون: Alice Costantini, Sini Skarp, Anders Kämpe, Riikka E. Mäkitie, Maria Pettersson, Minna Männikkö, Hong Jiao, Fulya Taylan, Anna Lindstrand, Outi Mäkitie

المصدر: Frontiers in Endocrinology, Vol 9 (2018)

مصطلحات موضوعية: osteoporosis, bone fracture, cilia, copy number variant (CNV), array CGH, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fendo.2018.00380/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/8a6606054151457db6a3f1a373ef771b

المؤلفون: Heli Viljakainen, Johanna C Andersson-Assarsson, Miriam Armenio, Minna Pekkinen, Maria Pettersson, Helena Valta, Marita Lipsanen-Nyman, Outi Mäkitie, Anna Lindstrand

المصدر: PLoS ONE, Vol 10, Iss 7, p e0131883 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4489572?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/64450961b1af458c83a05c8cb84c4c83

المؤلفون: Susana Goytia, Maria Pettersson, Thomas Schellenberger, Willemijn J. van Doorn-Hoekveld, Sally Priest

المصدر: Ecology and Society, Vol 21, Iss 4, p 23 (2016)

مصطلحات موضوعية: Adaptive governance, flood defense, flood risk, flood risk management, water law, Biology (General), QH301-705.5, Ecology, QH540-549.5

وصف الملف: electronic resource

Relation: http://www.ecologyandsociety.org/vol21/iss4/art23/; https://doaj.org/toc/1708-3087

URL الوصول: https://doaj.org/article/57b7e8eb43f3450091f4ce7e4a5ba7f0