Showing 1 - 7 results of 7 for search 'Rebekkah J. Hitti', query time: 0.04s Refine Results
  1. 1
    A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (<i>BBS2</i>) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog

    A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (<i>BBS2</i>) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog by Rebekkah J. Hitti-Malin, Louise M. Burmeister, Frode Lingaas, Maria Kaukonen, Inka Pettinen, Hannes Lohi, David Sargan, Cathryn S. Mellersh

    Published 2021-11-01
    Get full text
    Article
  2. 2
    A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs

    A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs by Rebekkah J. Hitti-Malin, Louise M. Burmeister, Sally L. Ricketts, Thomas W. Lewis, Louise Pettitt, Mike Boursnell, Ellen C. Schofield, David Sargan, Cathryn S. Mellersh

    Published 2020-09-01
    Get full text
    Article
  3. 3
    Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog.

    Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog. by Renata Stavinohova, Claudia Hartley, Louise M Burmeister, Sally L Ricketts, Louise Pettitt, Roser Tetas Pont, Rebekkah J Hitti, Ellen Schofield, James A C Oliver, Cathryn S Mellersh

    Published 2019-01-01
    Get full text
    Article
  4. 4
    An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed

    An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed by Oliver P. Forman, Rebekkah J. Hitti, Louise Pettitt, Christopher A. Jenkins, Dennis P. O’Brien, G. Diane Shelton, Luisa De Risio, Rodrigo Gutierrez Quintana, Elsa Beltran, Cathryn Mellersh

    Published 2016-09-01
    Get full text
    Article
  5. 5
    Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK

    Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK by Benjamin Mc Clinton, Zelia Corradi, Martin McKibbin, Daan M. Panneman, Susanne Roosing, Erica G. M. Boonen, Manir Ali, Christopher M. Watson, David H. Steel, Frans P. M. Cremers, Chris F. Inglehearn, Rebekkah J. Hitti-Malin, Carmel Toomes

    Published 2023-01-01
    Get full text
    Article
  6. 6
    Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

    Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis by Daan M. Panneman, Daan M. Panneman, Rebekkah J. Hitti-Malin, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Suzanne E. de Bruijn, Janine Reurink, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Elfride De Baere, Sandro Banfi, Sandro Banfi, Miriam Bauwens, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Béatrice Bocquet, Marieke De Bruyne, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Frauke Coppieters, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Bart P. Leroy, Bart P. Leroy, Bart P. Leroy, Martin McKibbin, Martin McKibbin, Isabelle Meunier, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Carlo Rivolta, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Christian Gilissen, Alexander Hoischen, Alexander Hoischen, Alexander Hoischen, Frans P. M. Cremers, Frans P. M. Cremers, Susanne Roosing, Susanne Roosing

    Published 2023-02-01
    Get full text
    Article
  7. 7
    Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

    Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes by Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers

    Published 2024-03-01
    Get full text
    Article

Search Tools: