Showing 1 - 5 results of 5 for search 'Penny Clouston', query time: 0.49s
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A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in <i>RS1</i>, and Skewed X-Inactivat... by Jennifer Kirkby, Stephanie Halford, Morag Shanks, Anthony Moore, Anthony Gait, Lucy Jenkins, Penny Clouston, Chetan K. Patel, Susan M. Downes
Published 2023-05-01
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Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL by Susan M. Downes, Tham Nguyen, Vicky Tai, Suzanne Broadgate, Mital Shah, Saoud Al-Khuzaei, Robert E. MacLaren, Morag Shanks, Penny Clouston, Stephanie Halford
Published 2020-12-01
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Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes by Helena M. Feenstra, Saoud Al-Khuzaei, Mital Shah, Suzanne Broadgate, Morag Shanks, Archith Kamath, Jing Yu, Jasleen K. Jolly, Robert E. MacLaren, Penny Clouston, Stephanie Halford, Susan M. Downes
Published 2022-08-01
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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation by Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, Katherine A. Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibaut, Jonathan Williams, Edward M. Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M. Lees, Harry G. Leitch, Jenny E. V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J. Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W. Davies, Andrew O. M. Wilkie, Anne Goriely
Published 2023-02-01
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