E-LIB Suche - Ergebnisse für: Chioza, Barry A.

1

Quantifying the proportion of different cell types in the h..:

Hannon, Eilis ; Dempster, Emma L ; Davies, Jonathan P...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10809680/. , 2024

2

DNA methylation signatures of Alzheimer's disease neuropath..:

Shireby, Gemma ; Dempster, Emma L ; Policicchio, Stefania...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9509387/. , 2022

Link: http://www.ncbi.nlm.nih...

3

Mutations in MINAR2 encoding membrane integral NOTCH2-assoc..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
http://nectar.northampton.ac.uk/16974/1/Bademci_etal_PNAS_2022_Mutations_in_MINAR2_encoding_membrane_integral_NOTCH2_associated_receptor_2_cause_deafness_in_humans_and_mice.pdf. , 2022

Link: http://nectar.northampto..

4

DNA methylation signatures of Alzheimer's disease neuropath..:

Shireby, Gemma ; Dempster, Emma L ; Policicchio, Stefania...
Shireby , G , Dempster , E L , Policicchio , S , Smith , R G , Pishva , E , Chioza , B , Davies , J P , Burrage , J , Lunnon , K , Seiler Vellame , D , Love , S , Thomas , A , Brookes , K , Morgan , K , Francis , P , Hannon , E & Mill , J 2022 , ' DNA methylation signatures of Alzheimer's disease neuropathology in the cortex are primarily driven by variation in non-neuronal cell-types ' , Nature Communications , vol. 13 , no. 1 , 5620 , pp. 5620 . https://doi.org/10.1038/s41467-022-33394-7. , 2022

Link: https://hdl.handle.net/1..

5

Mutations in MINAR2 encoding membrane integral NOTCH2-assoc..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
Bademci , G , Lachgar-Ruiz , M , Deokar , M , Zafeer , M F , Abad , C , Yildirim Baylan , M , Ingham , N J , Chen , J , Sineni , C J , Vadgama , N , Karakikes , I , Guo , S , Duman , D , Singh , N , Harlalka , G , Jain , S P , Chioza , B A , Walz , K , Steel , K P , Nasir , J & Tekin , M 2022 , ' Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice ' , Proceedings of the National Academy of Sciences of the United States of America , vol. 119 , no. 26 , e2204084119 , pp. e2204084119 . https://doi.org/10.1073/pnas.2204084119. , 2022

Link: https://kclpure.kcl.ac.u..

6

DNA methylation signatures of Alzheimer's disease neuropath..:

Gemma Shireby ; Emma L. Dempster ; Stefania Policicchio...
https://doi.org/10.1038/s41467-022-33394-7. , 2022

Link: https://doi.org/10.1038/..

7

Mutations in MINAR2 encoding membrane integral NOTCH2-assoc..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
Bademci , G , Lachgar-Ruiz , M , Deokar , M , Zafeer , M F , Abad , C , Yildirim Baylan , M , Ingham , N J , Chen , J , Sineni , C J , Vadgama , N , Karakikes , I , Guo , S , Duman , D , Singh , N , Harlalka , G , Jain , S P , Chioza , B A , Walz , K , Steel , K P , Nasir , J & Tekin , M 2022 , ' Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice ' , Proceedings of the National Academy of Sciences of the United States of America , vol. 119 , no. 26 , e2204084119 , pp. e2204084119 . https://doi.org/10.1073/pnas.2204084119. , 2022

Link: https://kclpure.kcl.ac.u..

8

Elucidating the clinical spectrum and molecular basis of HY..:

Fasham, James ; Lin, Siying ; Ghosh, Promita...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9933146/. , 2022

Link: http://www.ncbi.nlm.nih...

9

DNA methylation signatures of Alzheimer's disease neuropath..:

Shireby, Gemma ; Dempster, Emma L ; Policicchio, Stefania...
https://nottingham-repository.worktribe.com/output/11742473. , 2022

Link: https://doi.org/10.1038/..

10

Mutations in MINAR2 encoding membrane integral NOTCH2-assoc..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9245706/. , 2022

Link: http://www.ncbi.nlm.nih...

11

Mutations in MINAR2 encoding membrane integral NOTCH2-assoc..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
Bademci , G , Lachgar-Ruiz , M , Deokar , M , Zafeer , M F , Abad , C , Baylan , M Y , Ingham , N , Chen , J , Sineni , C , Vadgama , N , Karakikes , I , Guo , S , Duman , D , Singh , N , Harlalka , G , Chioza , B , Walz , K , Steel , K P , Nasir , J & Tekin , M 2022 , ' Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice ' , Proceedings of the National Academy of Sciences of the United States of America , vol. 119 , no. 26 , e2204084119 . https://doi.org/10.1073/pnas.2204084119. , 2022

Link: https://pure.northampton..

12

Patient EEG report findings for eight individuals affected ..:

Zineb Ammous (11486051) ; Lettie E. Rawlins (11486054) ; Hannah Jones (475975)...
https://figshare.com/articles/journal_contribution/Patient_EEG_report_findings_for_eight_individuals_affected_with_SNIP1-related_disorder_/16688654. , 2021

Link: https://doi.org/10.1371/..

13

Heatmap showing tissue expression levels of the top 50 gene..:

Zineb Ammous (11486051) ; Lettie E. Rawlins (11486054) ; Hannah Jones (475975)...
https://figshare.com/articles/journal_contribution/Heatmap_showing_tissue_expression_levels_of_the_top_50_genes_with_upregulated_expression_in_individuals_with_i_SNIP1_i_-related_disorder_/16688663. , 2021

Link: https://doi.org/10.1371/..

14

A biallelic SNIP1 Amish founder variant causes a recognizab..:

Zineb Ammous ; Lettie E Rawlins ; Hannah Jones...
https://doi.org/10.1371/journal.pgen.1009803. , 2021

Link: https://doi.org/10.1371/..

15

Clinical features of 35 individuals with SNIP1 -related dis..:

Zineb Ammous (11486051) ; Lettie E. Rawlins (11486054) ; Hannah Jones (475975)...
https://figshare.com/articles/dataset/Clinical_features_of_35_individuals_with_i_SNIP1_i_-related_disorder_/16688681. , 2021

Link: https://doi.org/10.1371/..