Search

Author/Creator Ross, M. Elizabeth

2. CIC missense variants contribute to susceptibility for spina bifida. Issue 12 (12th September 2022)

Authors:
Han, Xiao; Cao, Xuanye; Aguiar‐Pulido, Vanessa; Yang, Wei; Karki, Menuka; Ramirez, Paula Andrea Pimienta; Cabrera, Robert M.; Lin, Ying Linda; Wlodarczyk, Bogdan J.; Shaw, Gary M.; Ross, M. Elizabeth; Zhang, Cuilian; Finnell, Richard H.; Lei, Yunping
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
2021
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Metabolite profiling of whole murine embryos reveals metabolic perturbations associated with maternal valproate‐induced neural tube closure defects. Issue 2 (30th January 2017)

Authors:
Akimova, Darya; Wlodarczyk, Bogdan J.; Lin, Ying; Ross, M. Elizabeth; Finnell, Richard H.; Chen, Qiuying; Gross, Steven S.
Journal:
Birth defects research
Issue:
Volume 109:Issue 2(2017)
Page Start:
106
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. Issue 1 (24th January 2017)

Authors:
Elsaid, Mahmoud Fawzi; Chalhoub, Nader; Ben‐Omran, Tawfeg; Kumar, Pankaj; Kamel, Hussein; Ibrahim, Khalid; Mohamoud, Yasmin; Al‐Dous, Eman; Al‐Azwani, Iman; Malek, Joel A.; Suhre, Karsten; Ross, M. Elizabeth; Aleem, Alice Abdel
Journal:
Annals of neurology
Issue:
Volume 81:Issue 1(2017:Jan.)
Page Start:
68
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. Issue 1 (January 2017)

Authors:
Elsaid, Mahmoud Fawzi; Chalhoub, Nader; Ben‐Omran, Tawfeg; Kumar, Pankaj; Kamel, Hussein; Ibrahim, Khalid; Mohamoud, Yasmin; Al‐Dous, Eman; Al‐Azwani, Iman; Malek, Joel A.; Suhre, Karsten; Ross, M. Elizabeth; Aleem, Alice Abdel
Journal:
Annals of neurology
Issue:
Volume 81:Issue 1(2017:Jan.)
Page Start:
68
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Issue 7 (24th April 2019)

Authors:
Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon‐Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein...
Journal:
Human mutation
Issue:
Volume 40:Issue 7(2019)
Page Start:
908
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗