Hasil Pencarian - Zeynep Tumer

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  1. 1
    Is It a Pathogenic ATP7A Variation and Is It Menkes Disease?

    Is It a Pathogenic ATP7A Variation and Is It Menkes Disease? oleh Zeynep Tümer

    Diterbitkan 2015-01-01
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  2. 2
    Mitochondrial Function in Gilles de la Tourette Syndrome Patients With and Without Intragenic IMMP2L Deletions

    Mitochondrial Function in Gilles de la Tourette Syndrome Patients With and Without Intragenic IMMP2L Deletions oleh Victoria A. Bjerregaard, Bitten Schönewolf-Greulich, Lene Juel Rasmussen, Claus Desler, Zeynep Tümer, Zeynep Tümer

    Diterbitkan 2020-03-01
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  3. 3
    Splice site mutations in the ATP7A gene.

    Splice site mutations in the ATP7A gene. oleh Tina Skjørringe, Zeynep Tümer, Lisbeth Birk Møller

    Diterbitkan 2011-04-01
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  4. 4
    Neurodevelopmental Disorders Associated with PSD-95 and Its Interaction Partners

    Neurodevelopmental Disorders Associated with PSD-95 and Its Interaction Partners oleh Amanda M. Levy, Paulino Gomez-Puertas, Zeynep Tümer

    Diterbitkan 2022-04-01
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  5. 5
    Classification of MSH6 Variants of Uncertain Significance Using Functional Assays

    Classification of MSH6 Variants of Uncertain Significance Using Functional Assays oleh Jane H. Frederiksen, Sara B. Jensen, Zeynep Tümer, Thomas v. O. Hansen

    Diterbitkan 2021-08-01
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  6. 6
    A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance

    A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance oleh Christian Grønhøj Larsen, Mette Gyldenløve, Aia Elise Jønch, Birgitte Charabi, Zeynep Tümer

    Diterbitkan 2015-01-01
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  7. 7
    Metaphase FISH on a Chip: Miniaturized Microfluidic Device for Fluorescence in situ Hybridization

    Metaphase FISH on a Chip: Miniaturized Microfluidic Device for Fluorescence in situ Hybridization oleh Niels Tommerup, Winnie E. Svendsen, Zeynep Tumer, Maria Dimaki, Pranjul Shah, Indumathi Vedarethinam

    Diterbitkan 2010-11-01
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  8. 8
    A Semi-Closed Device for Chromosome Spreading for Cytogenetic Analysis

    A Semi-Closed Device for Chromosome Spreading for Cytogenetic Analysis oleh Dorota Kwasny, Olga Mednova, Indumathi Vedarethinam, Maria Dimaki, Asli Silahtaroglu, Zeynep Tümer, Kristoffer Almdal, Winnie E. Svendsen

    Diterbitkan 2014-04-01
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  9. 9
    FISHprep: A Novel Integrated Device for Metaphase FISH Sample Preparation

    FISHprep: A Novel Integrated Device for Metaphase FISH Sample Preparation oleh Asli Silahtaroglu, Maria Dimaki, Lars Andresen, Zeynep Tümer, Søren Skov, Indumathi Vedarethinam, Dorota Kwasny, Winnie E. Svendsen, Pranjul Shah

    Diterbitkan 2011-04-01
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  10. 10
    Transient p53 Suppression Increases Reprogramming of Human Fibroblasts without Affecting Apoptosis and DNA Damage

    Transient p53 Suppression Increases Reprogramming of Human Fibroblasts without Affecting Apoptosis and DNA Damage oleh Mikkel A. Rasmussen, Bjørn Holst, Zeynep Tümer, Mads G. Johnsen, Shuling Zhou, Tina C. Stummann, Poul Hyttel, Christian Clausen

    Diterbitkan 2014-09-01
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  11. 11
    Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant

    Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant oleh Caroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller

    Diterbitkan 2019-12-01
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  12. 12
    BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells

    BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells oleh Caroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller

    Diterbitkan 2021-01-01
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  13. 13
    Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

    Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C oleh Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller

    Diterbitkan 2018-08-01
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  14. 14
    Investigation of SNP rs2060546 immediately upstream to NTN4 in a Danish Gilles de la Tourette syndrome cohort

    Investigation of SNP rs2060546 immediately upstream to NTN4 in a Danish Gilles de la Tourette syndrome cohort oleh Shanmukha Sampath Padmanabhuni, Rayan Houssari, Ann-Louise Esserlind, Jes Olesen, Thomas Werge, Thomas Folkmann Hansen, Birgitte Berterlsen, Fotis Tsetsos, Peristera Paschou, Zeynep Tumer

    Diterbitkan 2016-11-01
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  15. 15
    Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

    Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT oleh Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller

    Diterbitkan 2018-12-01
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  16. 16
    Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11

    Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11 oleh Susanne K. Hansen, Helena Borland, Lis F. Hasholt, Zeynep Tümer, Jørgen E. Nielsen, Mikkel A. Rasmussen, Troels T. Nielsen, Tina C. Stummann, Karina Fog, Poul Hyttel

    Diterbitkan 2016-05-01
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  17. 17
    Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11

    Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11 oleh Susanne K. Hansen, Helena Borland, Lis F. Hasholt, Zeynep Tümer, Jørgen E. Nielsen, Mikkel A. Rasmussen, Troels T. Nielsen, Tina C. Stummann, Karina Fog, Poul Hyttel

    Diterbitkan 2016-05-01
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  18. 18
    Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation

    Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation oleh Pritesh R. Jain, Myson Burch, Melanie Martinez, Pablo Mir, Jakub P. Fichna, Cezary Zekanowski, Renata Rizzo, Zeynep Tümer, Csaba Barta, Evangelia Yannaki, John Stamatoyannopoulos, Petros Drineas, Peristera Paschou

    Diterbitkan 2023-11-01
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  19. 19
    Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3

    Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3 oleh Susanne K. Hansen, Tina C. Stummann, Helena Borland, Lis F. Hasholt, Zeynep Tümer, Jørgen E. Nielsen, Mikkel A. Rasmussen, Troels T. Nielsen, Justus C.A. Daechsel, Karina Fog, Poul Hyttel

    Diterbitkan 2016-09-01
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  20. 20
    Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

    Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains oleh David Monk, Joannella Morales, Johan T. den Dunnen, Silvia Russo, Franck Court, Dirk Prawitt, Thomas Eggermann, Jasmin Beygo, Karin Buiting, Zeynep Tümer, the Nomenclature group of the European Network for Human Congenital Imprinting Disorders

    Diterbitkan 2018-02-01
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