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المؤلفون: Pettersson, Maria, Grochowski, Christopher M., Wincent, Josephine, Eisfeldt, Jesper, Breman, Amy M., Cheung, Sau W., Krepischi, Ana C. V., Rosenberg, Carla, Lupski, James R., Ottosson, Jesper, Lovmar, Lovisa, Gacic, Jelena, Lundberg, Elisabeth S., Nilsson, Daniel, Carvalho, Claudia M. B., Lindstrand, Anna
المصدر: Human Mutation. 41(11):1979-1998
مصطلحات موضوعية: chromosomal inversions, nonallelic homologous recombination, nonhomologous end-joining, recombinant chromosomes, replication-based repair mechanisms, whole-genome sequencing
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-170533Test
https://liu.diva-portal.org/smash/get/diva2:1476992/FULLTEXT01.pdfTest -
2دورية أكاديمية
المؤلفون: Kvarnung, Malin, Taylan, Fulya, Nilsson, Daniel, Anderlid, Britt‐Marie, Malmgren, Helena, Lagerstedt‐Robinson, Kristina, Holmberg, Eva, Burstedt, Magnus, Nordenskjöld, Magnus, Nordgren, Ann, Lundberg, Elisabeth S.
المصدر: Clinical Genetics ; volume 94, issue 6 ; ISSN 0009-9163 1399-0004
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المؤلفون: Kvarnung, Malin, Taylan, Fulya, Nilsson, Daniel, Anderlid, Britt-Marie, Malmgren, Helena, Lagerstedt-Robinson, Kristina, Holmberg, Eva, Burstedt, Magnus, Nordenskjöld, Magnus, Nordgren, Ann, Lundberg, Elisabeth S.
المصدر: Clinical Genetics. 94(6):528-537
مصطلحات موضوعية: ALG14, exome sequencing, genome screening, intellectual disability, KIAA1109, rare disorders
وصف الملف: print