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Author/Creator Hurst, Anna C. E.

2. Perspectives on the future of dysmorphology. Issue 3 (9th December 2022)

Authors:
Solomon, Benjamin D.; Adam, Margaret P.; Fong, Chin‐To; Girisha, Katta M.; Hall, Judith G.; Hurst, Anna C. E.; Krawitz, Peter M.; Moosa, Shahida; Phadke, Shubha R.; Tekendo‐Ngongang, Cedrik; Wenger, Tara L.
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 3(2023)
Page Start:
659
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Issue 5 (31st January 2021)

Authors:
Glinton, Kevin E.; Hurst, Anna C. E.; Bowling, Kevin M.; Cristian, Ingrid; Haynes, Devon; Adstamongkonkul, Dusit; Schnappauf, Oskar; Beck, David B.; Brewer, Carole; Parikh, Aditi Shah; Shinde, Deepali N.; Donaldson, Alan; Brautbar, Ariel; Koene, Saskia; van Haeringen, Arie; Piton, Amélie; Capri, ...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 5(2021)
Page Start:
1366
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Issue 3 (19th December 2019)

Authors:
Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Bagłaj, Maciej; Bofferding, Leon; Bosanko, Katherine B.; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D.; Harr, Margaret H.; Heck, Sandra; Hurst, Anna C. E.; J...
Journal:
Human mutation
Issue:
Volume 41:Issue 3(2020)
Page Start:
641
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗