يعرض 61 - 70 نتائج من 70 نتيجة بحث عن '"Eisfeldt, Jesper"', وقت الاستعلام: 1.05s تنقيح النتائج
  1. 61
    Additional file 2 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___::2988696cf79b167b7a3385cc8f36827cTest


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  2. 62
    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.

    المصدر: American Journal of Medical Genetics. Part A; Dec2021, Vol. 185 Issue 12, p3593-3600, 8p


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  3. 63
    دورية أكاديمية
    Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis

    المؤلفون: Pettersson, Maria, Eisfeldt, Jesper, Syk Lundberg, Elisabeth, Lundin, Johanna, Lindstrand, Anna

    المساهمون: SciLifeLab national sequencing projects grant, Swedish Research Council, Swedish Society for Medical Research big grant, Marianne and Marcus Wallenberg foundation, Stockholm County Council, Ulf Lundahl memory fund, Karolinska Institutet

    المصدر: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis ; volume 812, page 1-4 ; ISSN 0027-5107

    مصطلحات موضوعية: Health, Toxicology and Mutagenesis, Genetics, Molecular Biology

    الإتاحة: https://doi.org/10.1016/j.mrfmmm.2018.10.001Test
    https://api.elsevier.com/content/article/PII:S0027510718300708?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S0027510718300708?httpAccept=text/plainTest

    View record in BASE

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  4. 64
    From cytogenetics to cytogenomics whole genome sequencing as a comprehensive genetic test in rare disease diagnostics

    المؤلفون: Eisfeldt, Jesper, Lundin, Johanna, Pettersson, Maria, Kvarnung, Malin, Lieden, Agne, Sahlin, Ellika, Lagerstedt, Kristina, Martin, Marcel, Ygberg, Sofia, Bjerin, Olof, Stranneheim, Henrik, Wedell, Anna, Nordenskjold, Magnus, Soller, Maria Johansson, Nordgren, Ann, Wirta, Valtteri, Nilsson, Daniel, Lindstrand, Anna

    المصدر: Molecular Cytogenetics. 12

    وصف الملف: print

    الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-255379Test


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  5. 65
    دورية أكاديمية
    A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)

    المؤلفون: Grigelioniene, Giedre, Nevalainen, Pasi, Reyes, Monica, Thiele, Susanne, Tafaj, Olta, Molinaro, Angelo, Takatani, Rieko, Ala-Houhala, Marja, Nilsson, Daniel, Eisfeldt, Jesper, Lindstrand, Anna, A, Kottler, Marie-Laure, Mäkitie, Outi, Jüppner, Harald

    المساهمون: Karolinska Institutet Stockholm, Karolinska University Hospital Stockholm, Massachusetts General Hospital Boston, Tampere University Hospital, Karolinska Institutet Science Park, Service de Génétique CHU Caen, Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Normandie Université (NU)-Normandie Université (NU), Folkhälsan Research Center, Faculty of Medecine Helsinki, Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Children's Hospital, Helsingin yliopisto = Helsingfors universitet = University of Helsinki

    المصدر: ISSN: 0884-0431.

    مصطلحات موضوعية: DISORDERS OF CALCIUM/PHOSPHATE METABOLISM, EPIGENETICS, G protein, GNAS, PARATHYROID-RELATED DISORDERS, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

    العلاقة: hal-02391248; https://hal.science/hal-02391248Test; PUBMEDCENTRAL: PMC5395346

    الإتاحة: https://doi.org/10.1002/jbmr.3083Test
    https://hal.science/hal-02391248Test

    View record in BASE

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  6. 66
    Whole genome characterization of array defined clustered CNVs reveals two distinct complex rearrangement subclasses generated through either non homologous repair or template switching

    المؤلفون: Eisfeldt, Jesper, Nazaryan-Petersen, Lusine, Lundin, Johanna Lundin, Pettersson, Maria, Nilsson, Daniel, Wincent, Josephine, Lieden, Agne, Vezzi, Francesco, Wirta, Valteri, Käller, Max, Duelund, Tina, Houssari, Rayan, Pignata, Laura, Bak, Mads, Tommerup, Niels, Lundberg, Elisabeth Syk, Tumer, Zeynep, Lindstrand, Anna

    المصدر: Molecular Cytogenetics. 10

    وصف الملف: print

    الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-215481Test


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  7. 67
    دورية أكاديمية
    Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

    المؤلفون: Pettersson, Maria, Vaz, Raquel, Hammarsjö, Anna, Eisfeldt, Jesper, Carvalho, Claudia M. B., Hofmeister, Wolfgang, Tham, Emma, Horemuzova, Eva, Voss, Ulrika, Nishimura, Gen, Klintberg, Bo, Nordgren, Ann, Nilsson, Daniel, Grigelioniene, Giedre, Lindstrand, Anna

    المصدر: Human Mutation; Oct2018, Vol. 39 Issue 10, p1456-1467, 12p

    النص الكامل

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  8. 68
    دورية
    Identification and Interpretation of Clinically Relevant Somatic Variants from Whole-Genome Sequencing Data

    المؤلفون: Maqbool, Khurram, Hassan Foroughi-Asl, Hassan, Ashwini Jeggari, Ashwini, Ivanchuk, Vadym, Eisfeldt, Jesper, Renevey, Annick, Elhami, Keyvan, Rasi, Chiara, Nilsson, Daniel, Heinäniemi, Merja, Lohi, Olli, Wirta, Valtteri

    المصدر: Blood; November 2022, Vol. 140 Issue: Supplement 1 p13003-13004, 2p

    النص الكامل

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  9. 69
    دورية أكاديمية
    Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.

    المؤلفون: Hofmeister, Wolfgang, Pettersson, Maria, Kurtoglu, Deniz, Armenio, Miriam, Eisfeldt, Jesper, Papadogiannakis, Nikos, Gustavsson, Peter, Lindstrand, Anna

    المصدر: Human Mutation; Apr2018, Vol. 39 Issue 4, p495-505, 11p

    النص الكامل

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  10. 70
    دورية
    A somatic UBA2variant preceded ETV6-RUNX1in the concordant BCP-ALL of monozygotic twins

    المؤلفون: Bang, Benedicte, Eisfeldt, Jesper, Barbany, Gisela, Harila-Saari, Arja, Heyman, Mats, Zachariadis, Vasilios, Taylan, Fulya, Nordgren, Ann

    المصدر: Blood Advances; 20220101, Issue: Preprints

    النص الكامل

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