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Author/Creator Wade, Emma M.

1. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. Issue 7 (12th May 2017)

Authors:
Wade, Emma M.; Jenkins, Zandra A.; Daniel, Philip B.; Morgan, Tim; Addor, Marie C.; Adés, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae‐Joon; de Geus, Christa M.; Duba, Hans‐Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C. M.; Kim, Chong A.; Krakow, Deborah; Mo...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 7(2017)
Page Start:
1739
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Exon skip‐inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia. Issue 12 (17th July 2021)

Authors:
Wade, Emma M.; Jenkins, Zandra A.; Morgan, Tim; Gimenez, Gregory; Gibson, Hayley; Peng, Hui; Sanchez Russo, Rossana; Skraban, Cara M.; Bedoukian, Emma; Robertson, Stephen P.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 12(2021)
Page Start:
3675
Record Type:
Journal Article
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3. Frontometaphyseal dysplasia and keloid formation without FLNA mutations. (21st April 2015)

Authors:
Basart, Hanneke; van de Kar, Annekatrien; Adès, Lesley; Cho, Tae‐Joon; Carter, Erin; Maas, Saskia M.; Wilson, Louise C.; van der Horst, Chantal M. A. M.; Wade, Emma M.; Robertson, Stephen P.; Hennekam, Raoul C.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 6(2015:Jun.)
Page Start:
1215
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗