檢索結果 - Cas Simons

Refine Results
  1. 1
    Evolution, biogenesis and function of promoter-associated RNAs

    Evolution, biogenesis and function of promoter-associated RNAs 由 Ryan J. Taft, Craig D. Kaplan, Cas Simons, John S. Mattick

    出版 2009
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  2. 2
    Effect of 5'UTR introns on gene expression in Arabidopsis thaliana

    Effect of 5'UTR introns on gene expression in Arabidopsis thaliana 由 Betty Chung, Cas Simons, Andrew E. Firth, Chris M. Brown, Roger P. Hellens

    出版 2006
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  3. 3
    Identification of a Novel de Novo p.Phe932Ile KCNT1 Mutation in a Patient With Leukoencephalopathy and Severe Epilepsy

    Identification of a Novel de Novo p.Phe932Ile KCNT1 Mutation in a Patient With Leukoencephalopathy and Severe Epilepsy 由 Adeline Vanderver, Cas Simons, Johanna Schmidt, Philip Pearl, Miriam Bloom, Bennett Lavenstein, David S. Miller, Sean M. Grimmond, Ryan J. Taft

    出版 2013
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  4. 4
    Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

    Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1 由 Ivan Prokudin, Cas Simons, John Grigg, Rebecca Storen, Vikrant Kumar, Zai Yang Phua, James E. Smith, Maree Flaherty, Sonia Dávila, Robyn V. Jamieson

    出版 2013
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  5. 5
    Whole exome sequencing in family trios reveals<i>de novo</i>mutations in<i>PURA</i>as a cause of severe neurodevelopmental delay and learning disability

    Whole exome sequencing in family trios reveals<i>de novo</i>mutations in<i>PURA</i>as a cause of severe neurodevelopmental delay and learning disability 由 David Hunt, Richard J. Leventer, Cas Simons, Ryan J. Taft, Kathryn J. Swoboda, M. L. Gawne‐Cain, Alex Magee, Peter D. Turnpenny, Diana Baralle

    出版 2014
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  6. 6
    Expression of distinct RNAs from 3′ untranslated regions

    Expression of distinct RNAs from 3′ untranslated regions 由 Tim R. Mercer, Dagmar Wilhelm, Marcel E. Dinger, Giulia Soldà, Darren Korbie, Evgeny A. Glazov, Vy Truong, Maren Schwenke, Cas Simons, Klaus I. Matthaei, Robert Saint, Peter Koopman, John S. Mattick

    出版 2010
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  7. 7
    <i>DARS</i> -associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

    <i>DARS</i> -associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder 由 Nicole I. Wolf, Camilo Toro, Ilya Kister, Kartikasalwah Abd Latif, Richard J. Leventer, Amy Pizzino, Cas Simons, Truus E. M. Abbink, Ryan J. Taft, Marjo S. van der Knaap, Adeline Vanderver

    出版 2014
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  8. 8
    Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy

    Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy 由 Guy Helman, Ljubica Caldovic, Matthew T. Whitehead, Cas Simons, Knut Brockmann, Simon Edvardson, Renkui Bai, Isabella Moroni, J. Michael Taylor, Keith Van Haren, Ryan J. Taft, Adeline Vanderver, Marjo S. van der Knaap

    出版 2015
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  9. 9
    Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches

    Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches 由 Brendan Backhouse, Chloe Hanna, Gorjana Robevska, Jocelyn van den Bergen, Emanuele Pelosi, Cas Simons, Peter Koopman, Achmad Zulfa Juniarto, Sonia Grover, Sultana MH Faradz, Andrew Sinclair, Katie L. Ayers, Tiong Yang Tan

    出版 2018
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  10. 10
    <i>mafba</i> is a downstream transcriptional effector of Vegfc signaling essential for embryonic lymphangiogenesis in zebrafish

    <i>mafba</i> is a downstream transcriptional effector of Vegfc signaling essential for embryonic lymphangiogenesis in zebrafish 由 Katarzyna Koltowska, Scott Paterson, Neil I. Bower, Gregory J. Baillie, Anne K. Lagendijk, Jonathan W. Astin, Huijun Chen, Mathias François, Philip S. Crosier, Ryan J. Taft, Cas Simons, K. A. Smith, Benjamin M. Hogan

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  11. 11
    Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature

    Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature 由 Emma M. J. Passchier, Quinty Bisseling, Guy Helman, Rosalina M.L. van Spaendonk, Cas Simons, René C. L. Olsthoorn, Hieke van der Veen, Truus E. M. Abbink, Marjo S. van der Knaap, Rogier Min

    出版 2024
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  12. 12
    Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid Turnover

    Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid Turnover 由 Jessica De Angelis, Anne K. Lagendijk, Huijun Chen, Alisha Tromp, Neil I. Bower, Kathryn A. Tunny, Andrew J. Brooks, Jeroen Bakkers, Mathias François, Alpha S. Yap, Cas Simons, Carol Wicking, Benjamin M. Hogan, K. A. Smith

    出版 2017
    獲取全文 獲取全文
    Carta
    加到收藏夾
    Saved in:
  13. 13
    A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

    A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies 由 Sumit Parikh, Geneviève Bernard, Richard J. Leventer, Marjo S. van der Knaap, Johan Van Hove, Amy Pizzino, Nathan H. McNeill, Guy Helman, Cas Simons, Johanna Schmidt, William B. Rizzo, Marc C. Patterson, Ryan J. Taft, Adeline Vanderver

    出版 2014
    獲取全文
    Revisão
    加到收藏夾
    Saved in:
  14. 14
    TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

    TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes 由 Julian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi, Marianna Bugiani, Xiaoqin Fu, Nicole I. Wolf, Bruce Nmezi, Raphael Schiffmann, Mona Bugaighis, Tyler Mark Pierson, Guy Helman, Cas Simons, Marjo S. van der Knaap, Judy Liu, Quasar Saleem Padiath, Adeline Vanderver

    出版 2017
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  15. 15
    Evidence Aggregator: AI reasoning applied to rare disease diagnostics

    Evidence Aggregator: AI reasoning applied to rare disease diagnostics 由 Hope Twede, Ashley Mae Conard, Lynn Pais, Samantha J. Bryen, Emily O’Heir, Gregory G. Smith, Ron Paulsen, Christina A Austin-Tse, Alex Bloemendal, Cas Simons, Scott Saponas, Jeremiah D. Wander, Daniel G. MacArthur, Heidi L. Rehm

    出版 2025
    獲取全文
    Pré-impressão
    加到收藏夾
    Saved in:
  16. 16
    Long noncoding RNAs in mouse embryonic stem cell pluripotency and differentiation

    Long noncoding RNAs in mouse embryonic stem cell pluripotency and differentiation 由 Marcel E. Dinger, Paulo Amaral, Tim R. Mercer, Ken C. Pang, Stephen J. Bruce, Brooke Gardiner, Marjan Askarian-Amiri, Kelin Ru, Giulia Soldà, Cas Simons, Susan M. Sunkin, Mark L. Crowe, Sean M. Grimmond, Andrew C. Perkins, John S. Mattick

    出版 2008
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  17. 17
    Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

    Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation 由 Eline M. Hamilton, Emiel Polder, Adeline Vanderver, Sakkubai Naidu, Raphael Schiffmann, Kate Fisher, Ana Raguž, Luba Blumkin, Carola G.M. van Berkel, Quinten Waisfisz, Cas Simons, Ryan J. Taft, Truus E. M. Abbink, Nicole I. Wolf, Marjo S. van der Knaap

    出版 2014
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  18. 18
    Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms

    Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms 由 Thomas Forbes, Sara E. Howden, Kynan T. Lawlor, Belinda Phipson, Jovana Maksimovic, Lorna J. Hale, Sean B. Wilson, Catherine Quinlan, Gladys Ho, Katherine Holman, Bruce Bennetts, Joanna Crawford, Peter Trnka, Alicia Oshlack, Chirag Patel, Andrew Mallett, Cas Simons, Melissa H. Little

    出版 2018
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  19. 19
    A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

    A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy 由 Cas Simons, David A. Dyment, Stephen J. Bent, Joanna Crawford, Marc D’Hooghe, Alfried Kohlschütter, Sunita Venkateswaran, Guy Helman, Bwee Tien Poll‐The, Christine Makowski, Yoko Ito, Kristin D. Kernohan, Taila Hartley, Quinten Waisfisz, Ryan J. Taft, Marjo S. van der Knaap, Nicole I. Wolf

    出版 2017
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  20. 20
    <i>TUBB4A</i> de novo mutations cause isolated hypomyelination

    <i>TUBB4A</i> de novo mutations cause isolated hypomyelination 由 Amy Pizzino, Tyler Mark Pierson, Yiran Guo, Guy Helman, Sebastian Fortini, Kether Guerrero, Sulagna C. Saitta, Jennifer L. Murphy, Quasar Saleem Padiath, Yi Xie, Hákon Hákonarson, Xun Xu, Tara Funari, Michelle Fox, Ryan J. Taft, Marjo S. van der Knaap, Geneviève Bernard, Raphael Schiffmann, Cas Simons, Adeline Vanderver

    出版 2014
    獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: