E-LIB Suche - Ergebnisse für: Grosz, Bianca R.

1

A deep intronic variant in MME causes autosomal recessive C..:

Grosz, Bianca R. ; Parmar, Jevin M. ; Ellis, Melina...
Journal of the Peripheral Nervous System. 29 (2024) 2 - p. 262-274 , 2024

Link: https://doi.org/10.1111/..

2

Genome sequencing reanalysis increases the diagnostic yield..:

Fellner, Avi ; Wali, Gurusidheshwar M. ; Mahant, Neil...
Parkinsonism & Related Disorders. 124 (2024) - p. 107010 , 2024

Link: https://doi.org/10.1016/..

3

Novel gene–intergenic fusion involving ubiquitin E3 ligase ..:

Cutrupi, Anthony N ; Narayanan, Ramesh K ; Perez-Siles, Gonzalo...
Brain. 146 (2022) 3 - p. 880-897 , 2022

Link: https://doi.org/10.1093/..

4

Long read sequencing overcomes challenges in the diagnosis ..:

Grosz, Bianca R. ; Stevanovski, Igor ; Negri, Sara...
Journal of the Peripheral Nervous System. 27 (2022) 2 - p. 120-126 , 2022

Link: https://doi.org/10.1111/..

5

Identity-by-descent analysis of CMTX3 links three families ..:

Henden, Lyndal ; Grosz, Bianca R. ; Ellis, Melina...
Journal of Human Genetics. 68 (2022) 1 - p. 47-49 , 2022

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

6

A novel synonymous KMT2B variant in a patient with dystonia..:

Grosz, Bianca R. ; Tisch, Stephen ; Tchan, Michel C....
Molecular Genetics & Genomic Medicine. 10 (2022) 5 - p. , 2022

Link: https://doi.org/10.1002/..

7

Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-1..:

Grosz, Bianca R. ; Svaren, John ; Perez-Siles, Gonzalo..
neurogenetics. 22 (2021) 3 - p. 149-160 , 2021

Link: https://doi.org/10.1007/..

8

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes sev..:

Grosz, Bianca R. ; Golovchenko, Natasha B. ; Ellis, Melina...
Scientific Reports. 9 (2019) 1 - p. , 2019

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

9

Identity-by-descent analysis of CMTX3 links three families ..:

Henden, Lyndal ; Grosz, Bianca R ; Ellis, Melina...
Henden , L , Grosz , B R , Ellis , M , Nicholson , G A , Kennerson , M & Williams , K L 2023 , ' Identity-by-descent analysis of CMTX3 links three families through a common founder ' , Journal of Human Genetics , vol. 68 , no. 1 , pp. 47-49 . https://doi.org/10.1038/s10038-022-01078-1. , 2023

Link: https://researchers.mq.e..

10

A novel synonymous KMT2B variant in a patient with dystonia..:

Grosz, Bianca R ; Tisch, Stephen ; Tchan, Michel C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034664/. , 2022

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

11

Novel gene–intergenic fusion involving ubiquitin E3 ligase ..:

Cutrupi, Anthony N ; Narayanan, Ramesh K ; Perez-Siles, Gonzalo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976978/. , 2022

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

12

A novel synonymous KMT2B variant in a patient with dystonia..:

Grosz, Bianca R ; Tisch, Stephen ; Tchan, Michel C...
https://discovery.ucl.ac.uk/id/eprint/10145616/1/Kurian_A%20novel%20synonymous%20KMT2B%20variant%20in%20a%20patient%20with%20dystonia%20causes%20aberrant%20splicing.pdf. , 2022

Link: https://discovery.ucl.ac..

13

Identity-by-descent analysis of CMTX3 links three families ..:

Henden, Lyndal ; Grosz, Bianca R ; Ellis, Melina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812773/. , 2022

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

14

Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-1..:

Grosz, Bianca R ; Svaren, John ; Perez-Siles, Gonzalo..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8241655/. , 2021

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

15

A recurrent missense variant in ITPR3 causes demyelinating ..:

Beijer, Danique ; Dohrn, Maike F ; Rebelo, Adriana...
Brain. , 2024

Link: https://doi.org/10.1093/..