يعرض 51 - 60 نتائج من 192 نتيجة بحث عن '"Eisfeldt, Jesper"', وقت الاستعلام: 1.01s تنقيح النتائج
  1. 51
    دورية أكاديمية
    Whole‐genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

    المؤلفون: Plesser Duvdevani, Morasha, Pettersson, Maria, Eisfeldt, Jesper, Avraham, Ortal, Dagan, Judith, Frumkin, Ayala, Lupski, James R., Lindstrand, Anna, Harel, Tamar

    المساهمون: Hjärnfonden, National Institute of Neurological Disorders and Stroke, Stockholms Läns Landsting, Vetenskapsrådet

    المصدر: American Journal of Medical Genetics Part A ; volume 182, issue 5, page 1143-1151 ; ISSN 1552-4825 1552-4833

    الإتاحة: https://doi.org/10.1002/ajmg.a.61539Test

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  2. 52
    دورية أكاديمية
    Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

    المؤلفون: Zhang, Chaofan, Mazzeu, Juliana F., Eisfeldt, Jesper, Grochowski, Christopher M., White, Janson, Akdemir, Zeynep C., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lindstrand, Anna, Lupski, James R., Sutton, V. Reid, Carvalho, Claudia M. B.

    المساهمون: Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Human Genome Research Institute, National Institute of Neurological Disorders and Stroke, Vetenskapsrådet

    المصدر: American Journal of Medical Genetics Part A ; volume 185, issue 12, page 3593-3600 ; ISSN 1552-4825 1552-4833

    الإتاحة: https://doi.org/10.1002/ajmg.a.61908Test

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  3. 53
    دورية
    Uncommon Variants in FLG2and NOD2Are Associated with Atopic Dermatitis in the Ethiopian Population

    المؤلفون: Wang, Sailan, Elmgren, Julia K., Eisfeldt, Jesper, Asad, Samina, Ek, Marlene, Bilcha, Kassahun, Befekadu, Annisa, Wahlgren, Carl-Fredrik, Nordenskjöld, Magnus, Taylan, Fulya, Tapia-Paez, Isabel, Bradley, Maria

    المصدر: JID Innovations; July 2024, Vol. 4 Issue: 4

    النص الكامل

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  4. 54
    Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia

    المؤلفون: Bieder, Andrea, Einarsdottir, Elisabet, Matsson, Hans, Nilsson, Harriet E., Eisfeldt, Jesper, Dragomir, Anca, Paucar, Martin, Granberg, Tobias, Li, Tie-Qiang, Lindstrand, Anna, Kere, Juha, Tapia-Páez, Isabel

    مصطلحات موضوعية: Nonsynonymous substitution, Genetics, Situs inversus, Cilium, Dynein, medicine, Copy-number variation, Outer dynein arm, Biology, medicine.disease, Gene, Primary ciliary dyskinesia

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::142695826fa9d5cccf3557891d9a3b41Test
    https://doi.org/10.1101/2020.03.30.011783Test


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  5. 55
    Additional file 4 of pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing

    المؤلفون: Jessada Thutkawkorapin, Eisfeldt, Jesper, Tham, Emma, Nilsson, Daniel

    مصطلحات موضوعية: Data_FILES

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::994a9cc64bcd81224f29c22cea4b2581Test


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  6. 56
    Additional file 1 of Loqusdb: added value of an observations database of local genomic variation

    المؤلفون: Magnusson, Måns, Eisfeldt, Jesper, Nilsson, Daniel, Rosenbaum, Adam, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna, Stranneheim, Henrik

    مصطلحات موضوعية: InformationSystems_INFORMATIONSTORAGEANDRETRIEVAL, ComputingMilieux_COMPUTERSANDEDUCATION, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Data_FILES, ComputerApplications_COMPUTERSINOTHERSYSTEMS

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f82ff693d84a32d8308f519030b1144Test


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  7. 57
    Additional file 5 of pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing

    المؤلفون: Jessada Thutkawkorapin, Eisfeldt, Jesper, Tham, Emma, Nilsson, Daniel

    مصطلحات موضوعية: Data_FILES

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cb4f0e4b8d2c04474786be26a5d2559Test


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  8. 58
    Additional file 3 of pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing

    المؤلفون: Jessada Thutkawkorapin, Eisfeldt, Jesper, Tham, Emma, Nilsson, Daniel

    مصطلحات موضوعية: Data_FILES

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8240ace18456c303afc5a6ece227e65cTest


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  9. 59
    Additional file 7 of pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing

    المؤلفون: Jessada Thutkawkorapin, Eisfeldt, Jesper, Tham, Emma, Nilsson, Daniel

    مصطلحات موضوعية: Data_FILES

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d5ac0218a823d7a02940594fc5d68c1Test


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  10. 60
    Additional file 1 of Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report

    المؤلفون: Bieder, Andrea, Einarsdottir, Elisabet, Matsson, Hans, Nilsson, Harriet E., Eisfeldt, Jesper, Dragomir, Anca, Paucar, Martin, Granberg, Tobias, Li, Tie-Qiang, Lindstrand, Anna, Kere, Juha, Tapia-Páez, Isabel

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47f0301bd293d6ee396e3e8dd091d076Test


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