Search

Author/Creator Barnett, Christopher

3. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Issue 12 (December 2015)

Authors:
Mirzaa, Ghayda M; Conti, Valerio; Timms, Andrew E; Smyser, Christopher D; Ahmed, Sarah; Carter, Melissa; Barnett, Sarah; Hufnagel, Robert B; Goldstein, Amy; Narumi-Kishimoto, Yoko; Olds, Carissa; Collins, Sarah; Johnston, Kathreen; Deleuze, Jean-François; Nitschké, Patrick; Friend, Kathryn; Harri...
Journal:
Lancet neurology
Issue:
Volume 14:Issue 12(2015:Dec.)
Page Start:
1182
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH123. Issue 1 (26th November 2012)

Authors:
Nicholl, Jillian; Waters, Wendy; Suwalski, Shanna; Brown, Sue; Hull, Yvonne; Harbord, Michael G.; Entwistle, John; Thompson, Suzanna; Clark, Damian; Pridmore, Claire; Haan, Eric; Barnett, Christopher; McGregor, Lesley; Liebelt, Jan; Thompson, Elizabeth M.; Friend, Kathryn; Bain, Sharon M.; Yu, Su...
Journal:
American journal of medical genetics
Issue:
Volume 162:Issue 1(2013)
Page Start:
24
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders. Issue 22 (25th June 2021)

Authors:
Ravindran, Ethiraj; Jühlen, Ramona; Vieira-Vieira, Carlos H; Ha, Thuong; Salzberg, Yuval; Fichtman, Boris; Luise-Becker, Lena; Martins, Nuno; Picker-Minh, Sylvie; Bessa, Paraskevi; Arts, Peer; Jackson, Matilda R; Taranath, Ajay; Kamien, Benjamin; Barnett, Christopher; Li, Na; Tarabykin, Victor; S...
Journal:
Human molecular genetics
Issue:
Volume 30:Issue 22(2021)
Page Start:
2068
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis. Issue 3 (March 2019)

Authors:
Rhodes, Christopher J; Batai, Ken; Bleda, Marta; Haimel, Matthias; Southgate, Laura; Germain, Marine; Pauciulo, Michael W; Hadinnapola, Charaka; Aman, Jurjan; Girerd, Barbara; Arora, Amit; Knight, Jo; Hanscombe, Ken B; Karnes, Jason H; Kaakinen, Marika; Gall, Henning; Ulrich, Anna; Harbaum, Lars;...
Journal:
Lancet
Issue:
Volume 7:Issue 3(2019)
Page Start:
227
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗