Search in field:

  • All fields
  • Person/Institution
  • Title
  • Keyword
  • Bar-code
  • ISBN/ISSN/ISMN/DOI
  • RVK notation
  • Shelf-mark
  • Publisher/place
  • Series
  • Provenance

Recently searched for:

Results

1 – 20 of 74
Skip to contents
  4. Best, Sunayna ; Inglehearn, Chris F. ; Watson, Christopher M. ; Toomes, Carmel ; Wheway, Gabrielle ; Johnson, Colin A.

    Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort

    Media type: Articles
    View online
    Schließen

    Access

    Close bookmarks
    Bookmarks
    You can manage bookmarks using lists, please log in to your user account for this.

    Wiley, 2022

    Published in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 190 (2022) 1, Seite 5-8
  8. Abdelhamed, Zakia A. ; Wheway, Gabrielle ; Szymanska, Katarzyna ; Natarajan, Subaashini ; Toomes, Carmel ; Inglehearn, Chris ; Johnson, Colin A.

    Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

    Media type: Articles
    View online
    Schließen

    Access

    Close bookmarks
    Bookmarks
    You can manage bookmarks using lists, please log in to your user account for this.

    Oxford University Press (OUP), 2013

    Published in: Human Molecular Genetics, 22 (2013) 7, Seite 1358-1372
  11. McClinton, Benjamin ; Watson, Christopher M. ; Crinnion, Laura A. ; McKibbin, Martin ; Ali, Manir ; Inglehearn, Chris F. ; Toomes, Carmel

    Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 Locus

    Media type: Articles
    View online
    Schließen

    Access

    Close bookmarks
    Bookmarks
    You can manage bookmarks using lists, please log in to your user account for this.

    Elsevier BV, 2023

    Published in: Laboratory Investigation, 103 (2023) 8, Seite 100160
  13. Abdelhamed, Zakia A. ; Natarajan, Subaashini ; Wheway, Gabrielle ; Inglehearn, Christopher F. ; Toomes, Carmel ; Johnson, Colin A. ; Jagger, Daniel J.

    The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

    Media type: Articles
    View online
    Schließen

    Access

    Close bookmarks
    Bookmarks
    You can manage bookmarks using lists, please log in to your user account for this.

    The Company of Biologists, 2015

    Published in: Disease Models & Mechanisms, 8 (2015) 6, Seite 527-541
  15. Kamal, Mohamed ; Shaaban, Abeer M. ; Zhang, Liqun ; Walker, Clare ; Gray, Sally ; Thakker, Nalin ; Toomes, Carmel ; Speirs, Valerie ; Bell, Sandra M.

    Loss of CSMD1 expression is associated with high tumour grade and poor survival in invasive ductal breast carcinoma

    Media type: Articles
    View online
    Schließen

    Access

    Close bookmarks
    Bookmarks
    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2010

    Published in: Breast Cancer Research and Treatment, 121 (2010) 3, Seite 555-563
  17. Praphanphoj, Verayuth ; Goodman, Barbara K. ; Thomas, George H. ; Niel, Kerry M. ; Toomes, Carmel ; Dixon, Michael J. ; Geraghty, Michael T.

    Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)

    Media type: Articles
    View online
    Schließen

    Access

    Close bookmarks
    Bookmarks
    You can manage bookmarks using lists, please log in to your user account for this.

    Elsevier BV, 2000

    Published in: Genomics, 65 (2000) 1, Seite 67-69
  18. McClinton, Benjamin ; Crinnion, Laura A. ; McKibbin, Martin ; Mukherjee, Rajarshi ; Poulter, James A. ; Smith, Claire E. L. ; Ali, Manir ; Watson, Christopher M. ; Inglehearn, Chris F. ; Toomes, Carmel

    Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies

    Media type: Articles
    View online
    Schließen

    Access

    Close bookmarks
    Bookmarks
    You can manage bookmarks using lists, please log in to your user account for this.

    Wiley, 2023

    Published in: Molecular Genetics & Genomic Medicine, 11 (2023) 6
  19. Best, Sunayna ; Lord, Jenny ; Roche, Matthew ; Watson, Christopher ; Poulter, James ; Szymanska, Katarzyna ; Ellingford, Jamie ; Carmichael, Jenny ; Brittain, Helen ; Toomes, Carmel ; Inglehearn, Chris ; Johnson, Colin ; Wheway, Gabrielle

    Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100 000 genomes project

    Media type: Articles
    View online
    Schließen

    Access

    Close bookmarks
    Bookmarks
    You can manage bookmarks using lists, please log in to your user account for this.

    Wiley, 2022

    Published in: Acta Ophthalmologica, 100 (2022) S267
  20. Abdelhamed, Zakia A. ; Abdelmottaleb, Dina I. ; El-Asrag, Mohammed E. ; Natarajan, Subaashini ; Wheway, Gabrielle ; Inglehearn, Chris F. ; Toomes, Carmel ; Johnson, Colin A.

    The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5

    Media type: Articles
    View online
    Schließen

    Access

    Close bookmarks
    Bookmarks
    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2019

    Published in: Scientific Reports, 9 (2019) 1
1 – 20 of 74

You did not find what you were looking for?

Purchase suggestion
Are you missing something you need for your research? If you have any suggestions please share them here.
Interlibrary Loan
Please search and order your favorite title in the Interlibrary Loan Portal.