Hasil Pencarian - Jesper Eisfeldt

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  1. 1
    Discovery of non-reference processed pseudogenes in the Swedish population

    Discovery of non-reference processed pseudogenes in the Swedish population oleh Esmee Ten Berk de Boer, Kristine Bilgrav Saether, Kristine Bilgrav Saether, Jesper Eisfeldt, Jesper Eisfeldt, Jesper Eisfeldt

    Diterbitkan 2023-05-01
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  2. 2
    pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing

    pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing oleh Jessada Thutkawkorapin, Jesper Eisfeldt, Emma Tham, Daniel Nilsson

    Diterbitkan 2020-04-01
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  3. 3
    Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model

    Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model oleh Jakob Schuy, Jesper Eisfeldt, Jesper Eisfeldt, Jesper Eisfeldt, Maria Pettersson, Maria Pettersson, Niloofar Shahrokhshahi, Mohsen Moslem, Daniel Nilsson, Daniel Nilsson, Daniel Nilsson, Niklas Dahl, Mansoureh Shahsavani, Anna Falk, Anna Falk, Anna Lindstrand, Anna Lindstrand

    Diterbitkan 2022-02-01
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  4. 4
    AMYCNE: Confident copy number assessment using whole genome sequencing data.

    AMYCNE: Confident copy number assessment using whole genome sequencing data. oleh Jesper Eisfeldt, Daniel Nilsson, Johanna C Andersson-Assarsson, Anna Lindstrand

    Diterbitkan 2018-01-01
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  5. 5
    TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data [version 2; referees: 2 approved]

    TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data [version 2; referees: 2 approved] oleh Jesper Eisfeldt, Francesco Vezzi, Pall Olason, Daniel Nilsson, Anna Lindstrand

    Diterbitkan 2017-06-01
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  6. 6
    A database on differentially expressed microRNAs during rodent bladder healing

    A database on differentially expressed microRNAs during rodent bladder healing oleh Clara Ibel Chamorro, Jesper Eisfeldt, Oliver Willacy, Nikolai Juul, Magdalena Fossum

    Diterbitkan 2021-11-01
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  7. 7
    Multi-Omic Investigations of a 17–19 Translocation Links <i>MINK1</i> Disruption to Autism, Epilepsy and Osteoporosis

    Multi-Omic Investigations of a 17–19 Translocation Links <i>MINK1</i> Disruption to Autism, Epilepsy and Osteoporosis oleh Jesper Eisfeldt, Jakob Schuy, Eva-Lena Stattin, Malin Kvarnung, Anna Falk, Lars Feuk, Anna Lindstrand

    Diterbitkan 2022-08-01
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  8. 8
    Loqusdb: added value of an observations database of local genomic variation

    Loqusdb: added value of an observations database of local genomic variation oleh Måns Magnusson, Jesper Eisfeldt, Daniel Nilsson, Adam Rosenbaum, Valtteri Wirta, Anna Lindstrand, Anna Wedell, Henrik Stranneheim

    Diterbitkan 2020-07-01
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  9. 9
    Insights into cellular behavior and micromolecular communication in urothelial micrografts

    Insights into cellular behavior and micromolecular communication in urothelial micrografts oleh Nikolai Juul, Oliver Willacy, Doste R. Mamand, Samir El Andaloussi, Jesper Eisfeldt, Clara I. Chamorro, Magdalena Fossum

    Diterbitkan 2023-08-01
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  10. 10
    Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia

    Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia oleh Karthick Natarajan, Jesper Eisfeldt, Maria Hammond, José Miguel Laffita-Mesa, Kalicharan Patra, Behzad Khoshnood, Linn Öijerstedt, Caroline Graff

    Diterbitkan 2021-08-01
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  11. 11
    Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients.

    Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients. oleh Karin Wallander, Jesper Eisfeldt, Mats Lindblad, Daniel Nilsson, Kenny Billiau, Hassan Foroughi, Magnus Nordenskjöld, Agne Liedén, Emma Tham

    Diterbitkan 2021-01-01
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  12. 12
    Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass

    Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass oleh Mari Muurinen, Fulya Taylan, Symeon Tournis, Jesper Eisfeldt, Alexia Balanika, Heleni Vastardis, Sirpa Ala‐Mello, Outi Mäkitie, Alice Costantini

    Diterbitkan 2022-08-01
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  13. 13
    Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.

    Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia. oleh Sara Dahl, Maria Pettersson, Jesper Eisfeldt, Anna Katharina Schröder, Ronny Wickström, Kristina Teär Fahnehjelm, Britt-Marie Anderlid, Anna Lindstrand

    Diterbitkan 2020-01-01
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  14. 14
    Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation

    Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation oleh Esmee ten Berk de Boer, Adam Ameur, Ignas Bunikis, Marlene Ek, Eva-Lena Stattin, Lars Feuk, Jesper Eisfeldt, Anna Lindstrand

    Diterbitkan 2024-04-01
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  15. 15
    Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

    Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome oleh Christopher M. Grochowski, Ana C. V. Krepischi, Jesper Eisfeldt, Jesper Eisfeldt, Haowei Du, Debora R. Bertola, Debora R. Bertola, Danyllo Oliveira, Silvia S. Costa, James R. Lupski, James R. Lupski, James R. Lupski, James R. Lupski, Anna Lindstrand, Anna Lindstrand, Claudia M. B. Carvalho, Claudia M. B. Carvalho

    Diterbitkan 2021-08-01
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  16. 16
    Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.

    Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements. oleh Jesper Eisfeldt, Maria Pettersson, Francesco Vezzi, Josephine Wincent, Max Käller, Joel Gruselius, Daniel Nilsson, Elisabeth Syk Lundberg, Claudia M B Carvalho, Anna Lindstrand

    Diterbitkan 2019-02-01
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  17. 17
    Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

    Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome oleh Alexandra Garza Flores, Alexandra Garza Flores, Ida Nordgren, Maria Pettersson, Maria Pettersson, Dora Dias-Santagata, Daniel Nilsson, Daniel Nilsson, Anna Hammarsjö, Anna Hammarsjö, Anna Lindstrand, Anna Lindstrand, Dominyka Batkovskyte, Janey Wiggs, David S. Walton, Paula Goldenberg, Jesper Eisfeldt, Jesper Eisfeldt, Angela E. Lin, Ralph S. Lachman, Ralph S. Lachman, Ralph S. Lachman, Gen Nishimura, Gen Nishimura, Giedre Grigelioniene, Giedre Grigelioniene, Giedre Grigelioniene

    Diterbitkan 2023-06-01
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  18. 18
    Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report

    Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report oleh Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie-Qiang Li, Anna Lindstrand, Juha Kere, Isabel Tapia-Páez

    Diterbitkan 2020-05-01
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  19. 19
    Uncommon Variants in FLG2 and NOD2 Are Associated with Atopic Dermatitis in the Ethiopian Population

    Uncommon Variants in FLG2 and NOD2 Are Associated with Atopic Dermatitis in the Ethiopian Population oleh Sailan Wang, Julia K. Elmgren, Jesper Eisfeldt, Samina Asad, Marlene Ek, Kassahun Bilcha, Annisa Befekadu, Carl-Fredrik Wahlgren, Magnus Nordenskjöld, Fulya Taylan, Isabel Tapia-Paez, Maria Bradley

    Diterbitkan 2024-07-01
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  20. 20
    Long-read whole-genome analysis of human single cells

    Long-read whole-genome analysis of human single cells oleh Joanna Hård, Jeff E. Mold, Jesper Eisfeldt, Christian Tellgren-Roth, Susana Häggqvist, Ignas Bunikis, Orlando Contreras-Lopez, Chen-Shan Chin, Jessica Nordlund, Carl-Johan Rubin, Lars Feuk, Jakob Michaëlsson, Adam Ameur

    Diterbitkan 2023-08-01
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