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Author/Creator Azmanov, Dimitar

1. Silver Russel syndrome in an aboriginal patient from Australia. Issue 12 (27th August 2018)

Authors:
Poulton, Cathryn; Azmanov, Dimitar; Atkinson, Vanessa; Beilby, John; Ewans, Lisa; Gration, Dylan; Dreyer, Lauren; Shetty, Vinutha; Peake, Ciara; McCormack, Emma; Palmer, Richard; Lewis, Barry; Dawkins, Hugh; Broley, Stephanie; Baynam, Gareth
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 12(2018)
Page Start:
2561
Record Type:
Journal Article
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2. A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy. Issue 12 (16th March 2020)

Authors:
Cabrera-Serrano, Macarena; Coote, David Joseph; Azmanov, Dimitar; Goullee, Hayley; Andersen, Erik; McLean, Catriona; Davis, Mark; Ishimura, Ryosuke; Stark, Zornitza; Vallat, Jean-Michel; Komatsu, Masaaki; Kornberg, Andrew; Ryan, Monique; Laing, Nigel G; Ravenscroft, Gina
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 12(2020)
Page Start:
835
Record Type:
Journal Article
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3. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders. Issue 11 (21st August 2022)

Authors:
Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat‐Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; ...
Other Names:
Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 11(2022)
Page Start:
1609
Record Type:
Journal Article
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