Search

Author/Creator Morton, Jenny

12. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Issue 10 (29th July 2022)

Authors:
Hardcastle, Amy; Berry, Aliska M.; Campbell, Ian M.; Zhao, Xiaonan; Liu, Pengfei; Gerard, Amanda E.; Rosenfeld, Jill A.; Sisoudiya, Saumya D.; Hernandez‐Garcia, Andres; Loddo, Sara; Di Tommaso, Silvia; Novelli, Antonio; Dentici, Maria L.; Capolino, Rossella; Digilio, Maria C.; Graziani, Ludovico;...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 10(2022)
Page Start:
2958
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

13. Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1. Issue 5 (20th June 2017)

Authors:
Suri, Mohnish; Evers, Jochem M. G.; Laskowski, Roman A.; O'Brien, Sinead; Baker, Kate; Clayton‐Smith, Jill; Dabir, Tabib; Josifova, Dragana; Joss, Shelagh; Kerr, Bronwyn; Kraus, Alison; McEntagart, Meriel; Morton, Jenny; Smith, Audrey; Splitt, Miranda; Thornton, Janet M.; Wright, Caroline F.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 5:Issue 5(2017)
Page Start:
495
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

15. The phenotype of Sotos syndrome in adulthood: A review of 44 individuals. Issue 4 (3rd September 2019)

Authors:
Foster, Alison; Zachariou, Anna; Loveday, Chey; Ashraf, Tazeen; Blair, Edward; Clayton‐Smith, Jill; Dorkins, Huw; Fryer, Alan; Gener, Blanca; Goudie, David; Henderson, Alex; Irving, Melita; Joss, Shelagh; Keeley, Vaughan; Lahiri, Nayana; Lynch, Sally Ann; Mansour, Sahar; McCann, Emma; Morton, Jen...
Other Names:
Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 181:Issue 4(2019)
Page Start:
502
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗