Hasil Pencarian - Tobias B Haack

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  1. 1
    Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins

    Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins oleh Jessika Johannsen, Maja Hempel, Thilo Diehl, Tobias B. Haack, Jonas Denecke

    Diterbitkan 2017-10-01
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  2. 2
    Unraveling haplotype errors in the DFNA33 locus

    Unraveling haplotype errors in the DFNA33 locus oleh Barbara Vona, Barbara Vona, Barbara Vona, Sabrina Regele, Aboulfazl Rad, Nicola Strenzke, Justin A. Pater, Justin A. Pater, Katrin Neumann, Marc Sturm, Tobias B. Haack, Tobias B. Haack, Antoinette G. Am Zehnhoff-Dinnesen

    Diterbitkan 2023-08-01
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  3. 3
    Clinical Characteristics of <i>POC1B</i>-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

    Clinical Characteristics of <i>POC1B</i>-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants oleh Nicole Weisschuh, Pascale Mazzola, Miriam Bertrand, Tobias B. Haack, Bernd Wissinger, Susanne Kohl, Katarina Stingl

    Diterbitkan 2021-05-01
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  4. 4
    Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process

    Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process oleh Frederik Braun, Andrea Gangfuß, Petra Stöbe, Tobias B. Haack, Bernd Schweiger, Andreas Roos, Ulrike Schara

    Diterbitkan 2021-12-01
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  5. 5
    Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia

    Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia oleh Jan Niklas Petry-Schmelzer, Joohyun Park, Tobias B. Haack, Veerle Visser-Vandewalle, Michael T. Barbe, Gilbert Wunderlich

    Diterbitkan 2022-05-01
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  6. 6
    Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype

    Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype oleh Claudia S. Priglinger, Günter Rudolph, Irene Schmid, Pascale Mazzola, Tobias B. Haack, Milda Reith, Katarina Stingl, Nicole Weisschuh

    Diterbitkan 2023-03-01
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  7. 7
    Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy

    Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy oleh Rebecca Herzog, Yorck Hellenbroich, Norbert Brüggemann, Katja Lohmann, Mona Grimmel, Tobias B. Haack, Sarah vonSpiczak, Alexander Münchau

    Diterbitkan 2021-07-01
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  8. 8
    A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of <em>WDR45</em>

    A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of <em>WDR45</em> oleh Andreas Hermann, Hagen H. Kitzler, Tobias Pollack, Saskia Biskup, Stefanie Krüger, Claudia Funke, Caterina Terille, Tobias B. Haack

    Diterbitkan 2017-08-01
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  9. 9
    Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function

    Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function oleh Benjamin Röeben, Justus Marquetand, Benjamin Bender, Heiko Billing, Tobias B. Haack, Iciar Sanchez-Albisua, Ludger Schöls, Henk J. Blom, Matthis Synofzik

    Diterbitkan 2017-08-01
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  10. 10
    Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa

    Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa oleh Anna Avesani, Laura Bielefeld, Nicole Weisschuh, Valerio Marino, Pascale Mazzola, Katarina Stingl, Tobias B. Haack, Karl-Wilhelm Koch, Daniele Dell’Orco

    Diterbitkan 2022-03-01
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  11. 11
    Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

    Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families oleh Sarah C. Grünert, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Stefanie Beck-Wödl, Tobias B. Haack, Mona Grimmel, Miriam Bertrand, Ute Spiekerkoetter

    Diterbitkan 2021-03-01
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  12. 12
    Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data

    Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data oleh German Demidov, Joohyun Park, Sorin Armeanu‐Ebinger, Cristiana Roggia, Ulrike Faust, Isabell Cordts, Maria Blandfort, Tobias B. Haack, Christopher Schroeder, Stephan Ossowski

    Diterbitkan 2021-12-01
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  13. 13
    Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

    Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy oleh Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B. Haack, Saskia Biskup, Susanne Kohl, Laura Kühlewein, Daniele Dell’Orco, Nicole Weisschuh

    Diterbitkan 2023-01-01
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  14. 14
    Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

    Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort oleh Stefanie Beck‐Wödl, Christiane Kehrer, Klaus Harzer, Tobias B. Haack, Friederike Bürger, Dorothea Haas, Angelika Rieß, Samuel Groeschel, Ingeborg Krägeloh‐Mann, Judith Böhringer

    Diterbitkan 2021-03-01
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  15. 15
    Novel Variants of <i>SOX4</i> in Patients with Intellectual Disability

    Novel Variants of <i>SOX4</i> in Patients with Intellectual Disability oleh Martin Grosse, Alma Kuechler, Tabib Dabir, Stephanie Spranger, Stefanie Beck-Wödl, Miriam Bertrand, Tobias B. Haack, Corinna Grasemann, Eva Manka, Christel Depienne, Frank J. Kaiser

    Diterbitkan 2023-02-01
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  16. 16
    A Novel, Apparently Silent Variant in <i>MFSD8</i> Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability

    A Novel, Apparently Silent Variant in <i>MFSD8</i> Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability oleh Milda Reith, Lena Zeltner, Karin Schäferhoff, Dennis Witt, Theresia Zuleger, Tobias B. Haack, Antje Bornemann, Michael Alber, Susanne Ruf, Ludger Schoels, Katarina Stingl, Nicole Weisschuh

    Diterbitkan 2022-02-01
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  17. 17
    Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome

    Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome oleh Dennis Witt, Ulrike Faust, Gertrud Strobl‐Wildemann, Marc Sturm, Rebecca Buchert, Theresia Zuleger, Jakob Admard, Nicolas Casadei, Stephan Ossowski, Tobias B. Haack, Olaf Rieß, Christopher Schroeder

    Diterbitkan 2023-06-01
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  18. 18
    Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes

    Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes oleh Jan-Philipp Bodenbender, Valerio Marino, Julia Philipp, Anke Tropitzsch, Christoph Kernstock, Katarina Stingl, Melanie Kempf, Tobias B. Haack, Theresia Zuleger, Pascale Mazzola, Susanne Kohl, Nicole Weisschuh, Daniele Dell’Orco, Laura Kühlewein

    Diterbitkan 2024-05-01
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  19. 19
    Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis Pigmentosa

    Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis Pigmentosa oleh Laura Kuehlewein, Ditta Zobor, Katarina Stingl, Melanie Kempf, Fadi Nasser, Antje Bernd, Saskia Biskup, Frans P.M. Cremers, Muhammad Imran Khan, Pascale Mazzola, Karin Schäferhoff, Tilman Heinrich, Tobias B. Haack, Bernd Wissinger, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl

    Diterbitkan 2021-02-01
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  20. 20
    Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q

    Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q oleh Chiara Diquigiovanni, Nicola Rizzardi, Antje Kampmeier, Irene Liparulo, Francesca Bianco, Bianca De Nicolo, Erica Cataldi-Stagetti, Elisabetta Cuna, Giulia Severi, Marco Seri, Miriam Bertrand, Tobias B. Haack, Adela Della Marina, Frederik Braun, Romana Fato, Alma Kuechler, Christian Bergamini, Elena Bonora

    Diterbitkan 2023-07-01
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