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Author/Creator Di Gioia, Silvio Alessandro

1. Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. (18th June 2019)

Authors:
Whitman, Mary C; Miyake, Noriko; Nguyen, Elaine H; Bell, Jessica L; Matos Ruiz, Paola M; Chan, Wai-Man; Di Gioia, Silvio Alessandro; Mukherjee, Nisha; Barry, Brenda J; Bosley, T M; Khan, Arif O; Engle, Elizabeth C
Journal:
Human molecular genetics
Issue:
Volume 28:Number 18(2019)
Page Start:
3113
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. Issue 4 (3rd February 2022)

Authors:
Natera‐de Benito, Daniel; Jurgens, Julie A.; Yeung, Alison; Zaharieva, Irina T.; Manzur, Adnan; DiTroia, Stephanie P.; Di Gioia, Silvio Alessandro; Pais, Lynn; Pini, Veronica; Barry, Brenda J.; Chan, Wai‐Man; Elder, James E.; Christodoulou, John; Hay, Eleanor; England, Eleina M.; Munot, Pinki; Hu...
Journal:
Human mutation
Issue:
Volume 43:Issue 4(2022)
Page Start:
487
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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