Publications

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Author Title [ Year(Desc)]
Filters: Author is Shaw-Smith, Charles  [Clear All Filters]
2016
Szafranski, P. et al. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet 135, 569-586 (2016).
2019
Amor, D. J. et al. Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet 104, 914-924 (2019).
2021
Rodríguez-Palmero, A. et al. DLG4-related synaptopathy: a new rare brain disorder. Genet Med 23, 888-899 (2021).