Hasil Pencarian - Dennis Lal

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  1. 1
    Technological and computational approaches to detect somatic mosaicism in epilepsy

    Technological and computational approaches to detect somatic mosaicism in epilepsy oleh Christian M. Boßelmann, Costin Leu, Dennis Lal

    Diterbitkan 2023-08-01
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  2. 2
    ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum

    ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum oleh Philippe A. Salles, Philippe A. Salles, Ignacio F. Mata, Tobias Brünger, Dennis Lal, Hubert H. Fernandez

    Diterbitkan 2021-04-01
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  3. 3
    KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.

    KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. oleh Kenneth A Myers, Amelia McGlade, Bernd A Neubauer, Dennis Lal, Samuel F Berkovic, Ingrid E Scheffer, Michael S Hildebrand

    Diterbitkan 2018-01-01
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  4. 4
    The role of sodium channels in sudden unexpected death in pediatrics

    The role of sodium channels in sudden unexpected death in pediatrics oleh Anne M. Rochtus, Richard D. Goldstein, Ingrid A. Holm, Catherine A. Brownstein, Eduardo Pérez‐Palma, Robin Haynes, Dennis Lal, Annapurna H. Poduri

    Diterbitkan 2020-08-01
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  5. 5
    Pleiotropy of polygenic factors associated with focal and generalized epilepsy in the general population.

    Pleiotropy of polygenic factors associated with focal and generalized epilepsy in the general population. oleh Costin Leu, Tom G Richardson, Tobias Kaufmann, Dennis van der Meer, Ole A Andreassen, Lars T Westlye, Robyn M Busch, George Davey Smith, Dennis Lal

    Diterbitkan 2020-01-01
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  6. 6
    Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.

    Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. oleh Dennis Lal, Bernd A Neubauer, Mohammad R Toliat, Janine Altmüller, Holger Thiele, Peter Nürnberg, Clemens Kamrath, Anne Schänzer, Thomas Sander, Andreas Hahn, Michael Nothnagel

    Diterbitkan 2016-01-01
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  7. 7
    Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder

    Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder oleh Alina Ivaniuk, Christian M. Boßelmann, Xiaoming Zhang, Mark St. John, Sara C. Taylor, Gokul Krishnaswamy, Alex Milinovich, Peter F. Aziz, Elia Pestana-Knight, Dennis Lal

    Diterbitkan 2024-01-01
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  8. 8
    Incidence and prevalence of major epilepsy-associated brain lesions

    Incidence and prevalence of major epilepsy-associated brain lesions oleh Javier A. López-Rivera, Victoria Smuk, Costin Leu, Gaelle Nasr, Deborah Vegh, Arthur Stefanski, Eduardo Pérez-Palma, Robyn Busch, Lara Jehi, Imad Najm, Ingmar Blümcke, Dennis Lal

    Diterbitkan 2022-01-01
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  9. 9
    P354: Automated reanalysis of clinical genetic test results: High variant reclassification rate

    P354: Automated reanalysis of clinical genetic test results: High variant reclassification rate oleh Emily Huth, Ludovica Montanucci, Tobias Bruenger, Costin Leu, Gary Taylor, Emile Moura Coelho da Silva, Oscar Mancera, Omolara Kolawole, Matthew Wright, Samden Lhatoo, Gretchen Von Allmen, Dennis Lal

    Diterbitkan 2024-01-01
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  10. 10
    Genetic and molecular features of seizure-freedom following surgical resections for focal epilepsy: A pilot study

    Genetic and molecular features of seizure-freedom following surgical resections for focal epilepsy: A pilot study oleh Shreya Louis, Robyn M. Busch, Robyn M. Busch, Robyn M. Busch, Dennis Lal, Dennis Lal, Jennifer Hockings, Jennifer Hockings, Jennifer Hockings, Jennifer Hockings, Olivia Hogue, Marcia Morita-Sherman, Deborah Vegh, Imad Najm, Imad Najm, Chaitali Ghosh, Chaitali Ghosh, Peter Bazeley, Charis Eng, Charis Eng, Charis Eng, Charis Eng, Lara Jehi, Lara Jehi, Lara Jehi, Daniel M. Rotroff, Daniel M. Rotroff, Daniel M. Rotroff

    Diterbitkan 2022-09-01
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  11. 11
    Correction: and Mutations in Rolandic Epilepsy.

    Correction: and Mutations in Rolandic Epilepsy. oleh Dennis Lal, Eva M. Reinthaler, Janine Altmüller, Mohammad R. Toliat, Holger Thiele, Peter Nürnberg, Holger Lerche, Andreas Hahn, Rikke S. Møller, Hiltrud Muhle, Thomas Sander, Fritz Zimprich, Bernd A. Neubauer

    Diterbitkan 2013-01-01
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  12. 12
    RBFOX1 and RBFOX3 mutations in rolandic epilepsy.

    RBFOX1 and RBFOX3 mutations in rolandic epilepsy. oleh Dennis Lal, Eva M Reinthaler, Janine Altmüller, Mohammad R Toliat, Holger Thiele, Peter Nürnberg, Holger Lerche, Andreas Hahn, Rikke S Møller, Hiltrud Muhle, Thomas Sander, Fritz Zimprich, Bernd A Neubauer

    Diterbitkan 2013-01-01
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  13. 13
    Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

    Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals oleh Ludovica Montanucci, David Lewis-Smith, Ryan L. Collins, Lisa-Marie Niestroj, Shridhar Parthasarathy, Julie Xian, Shiva Ganesan, Marie Macnee, Tobias Brünger, Rhys H. Thomas, Michael Talkowski, Epi25 Collaborative, Ingo Helbig, Costin Leu, Dennis Lal

    Diterbitkan 2023-07-01
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  14. 14
    P153: Characterizing the spectrum of CACNA1A-related disorders*

    P153: Characterizing the spectrum of CACNA1A-related disorders* oleh Emile Moura Coelho da Silva, Alina Ivaniuk, Emily Huth, Costin Leu, Oscar Mancera, Omolara Kolawole, Matthew Wright, Ian Butler, Pauline Filipek, Jeremy Lankford, Michael Watkins, Elia Pestana Knight, Samden Lhatoo, Gretchen Von Allmen, Dennis Lal

    Diterbitkan 2024-01-01
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  15. 15
    P369: SATB2-associated syndrome severity score: Genotype/phenotype correlations and the SATB2 portal

    P369: SATB2-associated syndrome severity score: Genotype/phenotype correlations and the SATB2 portal oleh Yuri Zarate, Katherine Bosanko, Amrit Kannan, Ashlen Thomason, Beth Nutt, Nihit Kumar, Kirk Simmons, Aaron Hiegert, Larry Hartzell, Adam Johnson, Tabitha Prater, Jillian Kimberlain, Aisling Caffrey, Arthur Stefanski, Tobias Brünger, Eduardo Pérez-Palma, Dennis Lal

    Diterbitkan 2023-01-01
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  16. 16
    Scanning mutagenesis of the voltage-gated sodium channel NaV1.2 using base editing

    Scanning mutagenesis of the voltage-gated sodium channel NaV1.2 using base editing oleh Juan Lorenzo B. Pablo, Savannah L. Cornett, Lei A. Wang, Sooyeon Jo, Tobias Brünger, Nikita Budnik, Mudra Hegde, Jean-Marc DeKeyser, Christopher H. Thompson, John G. Doench, Dennis Lal, Alfred L. George, Jr., Jen Q. Pan

    Diterbitkan 2023-06-01
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  17. 17
    Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

    Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy oleh Borislav Dejanovic, Dennis Lal, Claudia B. Catarino, Sita Arjune, Abdel A. Belaidi, Holger Trucks, Christian Vollmar, Rainer Surges, Wolfram S. Kunz, Susanne Motameny, Janine Altmüller, Anna Köhler, Bernd A. Neubauer, EPICURE Consortium, Peter Nürnberg, Soheyl Noachtar, Günter Schwarz, Thomas Sander

    Diterbitkan 2014-07-01
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  18. 18
    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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  19. 19
    Regulation of purine metabolism connects KCTD13 to a metabolic disorder with autistic features

    Regulation of purine metabolism connects KCTD13 to a metabolic disorder with autistic features oleh Jon M. Madison, Karen Duong, Ellen F. Vieux, Namrata D. Udeshi, Sumaiya Iqbal, Elise Requadt, Shaunt Fereshetian, Michael C. Lewis, Antonio S. Gomes, Kerry A. Pierce, Randall J. Platt, Feng Zhang, Arthur J. Campbell, Dennis Lal, Florence F. Wagner, Clary B. Clish, Steven A. Carr, Morgan Sheng, Edward M. Scolnick, Jeffrey R. Cottrell

    Diterbitkan 2021-01-01
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  20. 20
    The role of common genetic variation in presumed monogenic epilepsies

    The role of common genetic variation in presumed monogenic epilepsies oleh Ciarán Campbell, Costin Leu, Yen-Chen Anne Feng, Stefan Wolking, Claudia Moreau, Colin Ellis, Shiva Ganesan, Helena Martins, Karen Oliver, Isabelle Boothman, Katherine Benson, Anne Molloy, Lawrence Brody, Jacques L. Michaud, Fadi F. Hamdan, Berge A. Minassian, Holger Lerche, Ingrid E. Scheffer, Sanjay Sisodiya, Simon Girard, Patrick Cosette, Norman Delanty, Dennis Lal, Gianpiero L. Cavalleri

    Diterbitkan 2022-07-01
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