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Cerebral visual impairment: genetic diagnoses and phenotypic associations
Emogene Shaw, Ian Flitcroft, Richard Bowman, Kate Baker, , Genomics England Research Consortium, John C Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R Boustred, Helen Brittain, Matthew A Brown, Mark J CaulfieldSee the full list of authors

8 March 2024

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome
Anthony M Vandersteen, Ruwan A Weerakkody, David A Parry, Christina Kanonidou, Daniel J Toddie-Moore, Jana Vandrovcova, Rebecca Darlay, Javier Santoyo-Lopez, Alison Meynert, NIHR BioResource, Hanadi Kazkaz, Rodney Grahame, Carole Cummings, Marion Bartlett, Neeti GhaliSee the full list of authors

9 October 2023