Hasil Pencarian - Johannes R. Lemke

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  1. 1
    Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings

    Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with m... oleh Ulrike Mütze, Friederike Bürger, Jessica Hoffmann, Helmut Tegetmeyer, Jens Heichel, Petra Nickel, Johannes R Lemke, Steffen Syrbe, Skadi Beblo

    Diterbitkan 2017-03-01
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  2. 2
    Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies

    Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies oleh Akhil Velluva, Maximillian Radtke, Susanne Horn, Bernt Popp, Konrad Platzer, Erind Gjermeni, Chen-Ching Lin, Johannes R. Lemke, Antje Garten, Torsten Schöneberg, Matthias Blüher, Rami Abou Jamra, Diana Le Duc

    Diterbitkan 2021-11-01
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  3. 3
    Generation of two patient specific GABRD variants and their isogenic controls for modeling epilepsy

    Generation of two patient specific GABRD variants and their isogenic controls for modeling epilepsy oleh Morad Kamand, Reema Taleb, Methi Wathikthinnakon, Fadumo Abdullahi Mohamed, Said Pasalar Ghazanfari, Denis Konstantinov, Jonas Laugård Hald, Bjørn Holst, Charlotte Brasch-Andersen, Rikke S. Møller, Johannes R. Lemke, Ilona Krey, Kristine Freude, Abinaya Chandrasekaran

    Diterbitkan 2024-04-01
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  4. 4
    Refining Genotypes and Phenotypes in <i>KCNA2</i>-Related Neurological Disorders

    Refining Genotypes and Phenotypes in <i>KCNA2</i>-Related Neurological Disorders oleh Jan H. Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin A. Klotz, Thomas Bast, Tobias Dietel, G. Christoph Korenke, Sophie Christoph, Heiko Brennenstuhl, Guido Rubboli, Rikke S. Møller, Gaetan Lesca, Yves Chaix, Stefan Kölker, Georg F. Hoffmann, Johannes R. Lemke, Steffen Syrbe

    Diterbitkan 2021-03-01
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  5. 5
    Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion

    Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion oleh Marek B. Körner, Akhil Velluva, Linnaeus Bundalian, Maximilian Radtke, Chen-Ching Lin, Pia Zacher, Tobias Bartolomaeus, Anna S. Kirstein, Achmed Mrestani, Nicole Scholz, Konrad Platzer, Anne-Christin Teichmann, Julia Hentschel, Tobias Langenhan, Johannes R. Lemke, Antje Garten, Rami Abou Jamra, Diana Le Duc

    Diterbitkan 2022-08-01
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  6. 6
    Diagnostic value of partial exome sequencing in developmental disorders.

    Diagnostic value of partial exome sequencing in developmental disorders. oleh Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump

    Diterbitkan 2018-01-01
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  7. 7
    Correction: Diagnostic value of partial exome sequencing in developmental disorders.

    Correction: Diagnostic value of partial exome sequencing in developmental disorders. oleh Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump

    Diterbitkan 2020-01-01
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  8. 8
    Deep histopathology genotype–phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb

    Deep histopathology genotype–phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration... oleh Jonas Honke, Lucas Hoffmann, Roland Coras, Katja Kobow, Costin Leu, Tom Pieper, Till Hartlieb, Christian G. Bien, Friedrich Woermann, Thomas Cloppenborg, Thilo Kalbhenn, Ahmed Gaballa, Hajo Hamer, Sebastian Brandner, Karl Rössler, Arnd Dörfler, Stefan Rampp, Johannes R. Lemke, Sara Baldassari, Stéphanie Baulac, Dennis Lal, Peter Nürnberg, Ingmar Blümcke

    Diterbitkan 2023-11-01
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  9. 9
    Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons

    Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons oleh Chad R. Camp, Anna Vlachos, Chiara Klöckner, Ilona Krey, Tue G. Banke, Nima Shariatzadeh, Sarah M. Ruggiero, Peter Galer, Kristen L. Park, Adam Caccavano, Sarah Kimmel, Xiaoqing Yuan, Hongjie Yuan, Ingo Helbig, Tim A. Benke, Johannes R. Lemke, Kenneth A. Pelkey, Chris J. McBain, Stephen F. Traynelis

    Diterbitkan 2023-09-01
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  10. 10
    Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension

    Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension oleh Alex V. Postma, Christina K. Rapp, Katrin Knoflach, Alexander E. Volk, Johannes R. Lemke, Maximilian Ackermann, Nicolas Regamey, Philipp Latzin, Lucas Celant, Samara M.A. Jansen, Harm J. Bogaard, Aho Ilgun, Mariëlle Alders, Karin Y. van Spaendonck-Zwarts, Danny Jonigk, Christoph Klein, Stefan Gräf, Christian Kubisch, Arjan C. Houweling, Matthias Griese

    Diterbitkan 2023-01-01
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  11. 11
    Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women

    Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women oleh Ilnaz Sepahi, Ulrike Faust, Marc Sturm, Kristin Bosse, Martin Kehrer, Tilman Heinrich, Kathrin Grundman-Hauser, Peter Bauer, Stephan Ossowski, Hana Susak, Raymonda Varon, Evelin Schröck, Dieter Niederacher, Bernd Auber, Christian Sutter, Norbert Arnold, Eric Hahnen, Bernd Dworniczak, Shan Wang-Gorke, Andrea Gehrig, Bernhard H. F. Weber, Christoph Engel, Johannes R. Lemke, Andreas Hartkopf, Huu Phuc Nguyen, Olaf Riess, Christopher Schroeder

    Diterbitkan 2019-08-01
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  12. 12
    Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA

    Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA oleh Adam Benjamin Rohrlach, Maïté Rivollat, Patxuka de-Miguel-Ibáñez, Ulla Moilanen, Anne-Mari Liira, João C. Teixeira, Xavier Roca-Rada, Javier Armendáriz-Martija, Kamen Boyadzhiev, Yavor Boyadzhiev, Bastien Llamas, Anthi Tiliakou, Angela Mötsch, Jonathan Tuke, Eleni-Anna Prevedorou, Naya Polychronakou-Sgouritsa, Jane Buikstra, Päivi Onkamo, Philipp W. Stockhammer, Henrike O. Heyne, Johannes R. Lemke, Roberto Risch, Stephan Schiffels, Johannes Krause, Wolfgang Haak, Kay Prüfer

    Diterbitkan 2024-02-01
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  13. 13
    Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variantsResearch in context

    Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variantsResearch in context oleh Nazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, Han Chow Chua, Sebastián Ortiz de la Rosa, Katrine Marie Johannesen, Yael Michaeli-Yossef, Aline Vincent-Devulder, Catherine Meridda, Ange-Line Bruel, Alessandra Rossi, Chirag Patel, Joerg Klepper, Paolo Bonanni, Sara Minghetti, Marina Trivisano, Nicola Specchio, David Amor, Stéphane Auvin, Sarah Baer, Pierre Meyer, Mathieu Milh, Vincenzo Salpietro, Reza Maroofian, Johannes R. Lemke, Sarah Weckhuysen, Palle Christophersen, Guido Rubboli, Mary Chebib, Anders A. Jensen, Nathan L. Absalom, Rikke Steensbjerre Møller

    Diterbitkan 2024-08-01
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  14. 14
    Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

    Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. oleh Dennis Lal, Eva M Reinthaler, Borislav Dejanovic, Patrick May, Holger Thiele, Anna-Elina Lehesjoki, Günter Schwarz, Erik Riesch, M Arfan Ikram, Cornelia M van Duijn, Andre G Uitterlinden, Albert Hofman, Hannelore Steinböck, Ursula Gruber-Sedlmayr, Birgit Neophytou, Federico Zara, Andreas Hahn, Genetic Commission of the Italian League against Epilepsy, EuroEPINOMICS CoGIE Consortium, Padhraig Gormley, Felicitas Becker, Yvonne G Weber, Maria Roberta Cilio, Wolfram S Kunz, Roland Krause, Fritz Zimprich, Johannes R Lemke, Peter Nürnberg, Thomas Sander, Holger Lerche, Bernd A Neubauer

    Diterbitkan 2016-01-01
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  15. 15
    The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

    The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood oleh Jan Henje Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G. Janzarik, Gerhard Kluger, Hiltrud Muhle, Rikke S. Møller, Konrad Platzer, Joana Larupa Santos, Iben Bache, Astrid Bertsche, Michaela Bonfert, Ingo Borggräfe, Philip J. Broser, Alexandre N. Datta, Trine Bjørg Hammer, Hans Hartmann, Anette Hasse-Wittmer, Marco Henneke, Hermann Kühne, Johannes R. Lemke, Oliver Maier, Eva Matzker, Andreas Merkenschlager, Joachim Opp, Steffi Patzer, Kevin Rostasy, Birgit Stark, Adam Strzelczyk, Celina von Stülpnagel, Yvonne Weber, Markus Wolff, Birgit Zirn, Georg Friedrich Hoffmann, Stefan Kölker, Steffen Syrbe

    Diterbitkan 2020-10-01
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