Chioza, Barry A.
63  Ergebnisse:
Personensuche X
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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
 
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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
 
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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
 
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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
 
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8

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

Fasham, James ; Lin, Siying ; Ghosh, Promita...
Fasham , J , Lin , S , Ghosh , P , Radio , F C , Farrow , E G , Thiffault , I , Kussman , J , Zhou , D , Hemming , R , Zahka , K , Chioza , B A , Rawlins , L E , Wenger , O K , Gunning , A C , Pizzi , S , Onesimo , R , Zampino , G , Barker , E , Osawa , N , Rodriguez , M C , Neuhann , T M , Zackai , E H , Keena , B , Capasso , J , Levin , A V , Bhoj , E , Li , D , Hakonarson , H , Wentzensen , I M , Jackson , A , Chandler , K E , Coban-Akdemir , Z H , Posey , J E , Banka , S , Lupski , J R , Sheppard , S E , Tartaglia , M , Triggs-Raine , B , Crosby , A H & Baple , E L 2021 , ' Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency ' , Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1016/j.gim.2021.10.014.  , 2021
 
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Growth disrupting mutations in epigenetic regulatory molecu..:

Jeffries, Aaron R ; Maroofian, Reza ; Salter, Claire G...
Jeffries, A. R., Maroofian, R., Salter, C. G., Chioza, B. A., Cross, H. E., Patton, M. A., . & Aksglæde, L. (2019). Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging. Genome research, gr-243584..  , 2019
 
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