Hasil Pencarian - Christian Beetz

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  1. 1
    Dual genetic diagnoses - underappreciated "double trouble"

    Dual genetic diagnoses - underappreciated "double trouble" oleh Christian Beetz, Peter Bauer

    Diterbitkan 2020-12-01
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  2. 2
    A call for considering biochemical concepts in clinical genetics research

    A call for considering biochemical concepts in clinical genetics research oleh Peter Bauer, Christian Beetz, Arndt Rolfs

    Diterbitkan 2019-06-01
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  3. 3
    <i>SPAST</i> Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism

    <i>SPAST</i> Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism oleh Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, Amir Jahic, Christian Beetz, Anna Sulek

    Diterbitkan 2024-05-01
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  4. 4
    Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants

    Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants oleh Vindhya Lakmali Miyanawala, Christian Beetz, Samantha Waidyanatha, Sabine Schroder, Vasiliki Karageorgou, Claudia Cozma, Eresha Jasinge, Arndt Rolfs

    Diterbitkan 2019-12-01
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  5. 5
    Basic ctDNA Panel Promises Affordable Clinical Validity in Colon Cancer Patients but Not in Pancreas Cancer Patients

    Basic ctDNA Panel Promises Affordable Clinical Validity in Colon Cancer Patients but Not in Pancreas Cancer Patients oleh Mandy Radefeldt, Silke Stellmacher-Kaiser, Susann Krake, Brigitte Kragl, Sabrina Lemke, Christian Beetz, Peter Bauer, Christian Junghanß, Ruslan Al-Ali

    Diterbitkan 2023-11-01
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  6. 6
    P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort

    P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort oleh Tobias Boettcher, Christian Beetz, Daniel Schulze, Deepa Saravanakumar, Emir Zonic, Sabine Schroeder, Anett Kaune, Omid Paknia, Jorge Pinto Basto, Peter Bauer

    Diterbitkan 2024-01-01
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  7. 7
    Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease

    Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease oleh Tama Dinur, Peter Bauer, Christian Beetz, Claudia Cozma, Michal Becker-Cohen, Majdolen Istaiti, Arndt Rolfs, Volha Skrahina, Ari Zimran, Shoshana Revel-Vilk

    Diterbitkan 2023-02-01
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  8. 8
    “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay

    “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay oleh Amir Jahic, Sven Günther, Nicole Muschol, Barbro Fossøy Stadheim, Øivind Braaten, Hanne Kjensli Hyldebrandt, Gé‐Ann Kuiper, Karen Tylee, Frits A. Wijburg, Christian Beetz

    Diterbitkan 2019-09-01
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  9. 9
    Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

    Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm? oleh Tama Dinur, Peter Bauer, Christian Beetz, Guido Kramp, Claudia Cozma, Marius-Ionuț Iurașcu, Michal Becker-Cohen, Majdolen Istaiti, Arndt Rolfs, Ari Zimran, Shoshana Revel-Vilk

    Diterbitkan 2022-01-01
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  10. 10
    Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots

    Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots oleh Claudia Cozma, Paskal Cullufi, Guido Kramp, Marina Hovakimyan, Virtut Velmishi, Agim Gjikopulli, Sonila Tomori, Steffen Fischer, Sebastian Oppermann, Ulrike Grittner, Peter Bauer, Christian Beetz, Arndt Rolfs

    Diterbitkan 2020-06-01
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  11. 11
    Clinical, molecular, and genetic characteristics of the hereditary spastic paraplegia type 3

    Clinical, molecular, and genetic characteristics of the hereditary spastic paraplegia type 3 oleh Galina E. Rudenskaya, Varvara A. Kadnikova, Christian Beetz, Tatyana N. Proskokova, Irina G. Sermyagina, Anna A. Stepanova, Valery P. Fedotov, Elena L. Dadaly, Darya M. Guseva, Тatiana V. Markova, Oksana P. Ryzhkova

    Diterbitkan 2020-03-01
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  12. 12
    Rapid Large-Scale COVID-19 Testing during Shortages

    Rapid Large-Scale COVID-19 Testing during Shortages oleh Christian Beetz, Volha Skrahina, Toni M. Förster, Hanaa Gaber, Jefri J. Paul, Filipa Curado, Arndt Rolfs, Peter Bauer, Stephan Schäfer, Volkmar Weckesser, Vivi Lieu, Mandy Radefeldt, Claudia Pöppel, Susann Krake, Krishna K. Kandaswamy, Katja Bruesehafer, Florian Vogel

    Diterbitkan 2020-07-01
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  13. 13
    Prevalence of Fabry Disease among Patients with Parkinson’s Disease

    Prevalence of Fabry Disease among Patients with Parkinson’s Disease oleh Alexandra Lackova, Christian Beetz, Sebastian Oppermann, Peter Bauer, Petra Pavelekova, Tatiana Lorincova, Miriam Ostrozovicova, Kristina Kulcsarova, Jana Cobejova, Martin Cobej, Petra Levicka, Simona Liesenerova, Daniela Sendekova, Viktoria Sukovska, Zuzana Gdovinova, Vladimir Han, Mie Rizig, Henry Houlden, Matej Skorvanek

    Diterbitkan 2022-01-01
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  14. 14
    Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center

    Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center oleh Corina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, Iuliana Susnea, Bright D. Danquah, Galina Morales Torres, Maria Eugenia Rocha, Claudia Cozma, Deepa Saravanakumar, Sumanth Mannepalli, Krishna K. Kandaswamy, Sebastiano Di Bucchianico, Ralf Zimmermann, Arndt Rolfs, Peter Bauer, Christian Beetz

    Diterbitkan 2022-05-01
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  15. 15
    Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

    Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome oleh Claudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, Nawal Makhseed, Laila A. Selim, Amal M. Alhashem, Tawfeg Ben-Omran, Iman G. Mahmoud, Nihal M. Al Menabawy, Mariam Al-Mureikhi, Magi Martin, Laura Demuth, Zafer Yüksel, Christian Beetz, Peter Bauer, Arndt Rolfs

    Diterbitkan 2019-08-01
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  16. 16
    In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.

    In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11. oleh Rita-Eva Varga, Mukhran Khundadze, Markus Damme, Sandor Nietzsche, Birgit Hoffmann, Tobias Stauber, Nicole Koch, J Christopher Hennings, Patricia Franzka, Antje K Huebner, Michael M Kessels, Christoph Biskup, Thomas J Jentsch, Britta Qualmann, Thomas Braulke, Ingo Kurth, Christian Beetz, Christian A Hübner

    Diterbitkan 2015-08-01
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  17. 17
    A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.

    A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system. oleh Mukhran Khundadze, Katrin Kollmann, Nicole Koch, Christoph Biskup, Sandor Nietzsche, Geraldine Zimmer, J Christopher Hennings, Antje K Huebner, Judit Symmank, Amir Jahic, Elena I Ilina, Kathrin Karle, Ludger Schöls, Michael Kessels, Thomas Braulke, Britta Qualmann, Ingo Kurth, Christian Beetz, Christian A Hübner

    Diterbitkan 2013-01-01
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  18. 18
    Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology

    Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology oleh Volha Skrahina, Ulrike Grittner, Christian Beetz, Thomas Skripuletz, Martin Juenemann, Heidrun H. Krämer, Katrin Hahn, Andreas Rieth, Volker Schaechinger, Monica Patten, Christian Tanislav, Stephan Achenbach, Birgit Assmus, Fabian Knebel, Stefan Gingele, Aliaksandr Skrahin, Jörg Hartkamp, Toni M. Förster, Sabine Roesner, Catarina Pereira, Arndt Rolfs

    Diterbitkan 2021-01-01
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  19. 19
    Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study

    Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study oleh Filipa Curado, Sabine Rösner, Susanne Zielke, Gina Westphal, Ulrike Grittner, Volha Skrahina, Mohammed Alasel, Ahmad Mehmood Malik, Christian Beetz, Tobias Böttcher, Gal Barel, Ashish Prasad Sah, Tama Dinur, Nadeem Anjum, Quidad Ichraf, Yamna Kriouile, Zahra Hadipour, Fatemeh Hadipour, Shoshana Revel-Vilk, Claudia Cozma, Jörg Hartkamp, Huma Cheema, Ari Zimran, Peter Bauer, Arndt Rolfs

    Diterbitkan 2023-08-01
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  20. 20
    GGPS1‐associated muscular dystrophy with and without hearing loss

    GGPS1‐associated muscular dystrophy with and without hearing loss oleh Rauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, Maha S. Zaki, Heba Hosny, Cristiane Araujo Martins Moreno, Rahul Phadke, Irina Zaharieva, Clara Camelo Gontijo, Christian Beetz, Veronica Pini, Mojtaba Movahedinia, Edmar Zanoteli, Stephanie DiTroia, Sandrine Vuillaumier‐Barrot, Arnaud Isapof, Mohammad Yahya Vahidi Mehrjardi, Nasrin Ghasemi, Anna Sarkozy, Francesco Muntoni, Sandra Whalen, Barbara Vona, Henry Houlden, Reza Maroofian

    Diterbitkan 2022-09-01
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