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Bell, Katrina M.
~ 100
results:
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?
1
Deficiency of the mitochondrial ribosomal subunit, MRPL50, ..:
Bakhshalizadeh, Shabnam
;
Hock, Daniella H
;
Siddall, Nicole A
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329598/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
2
Modeling human skeletal development using human pluripotent..:
Lamandé, Shireen R
;
Ng, Elizabeth S
;
Cameron, Trevor L
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10175848/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
3
Integrated multi-omics for rapid rare disease diagnosis on ..:
Lunke, Sebastian
;
Bouffler, Sophie E
;
Patel, Chirag V
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10353936/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
4
Dominant TP63 missense variants lead to constitutive activa..:
Tucker, Elena J
;
Gutfreund, Niklas
;
Belaud-Rotureau, Marc-Antoine
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.24432. , 2022
Link:
https://hal.science/hal-..
?
5
Dominant TP63 missense variants lead to constitutive activa..:
Tucker, Elena J
;
Gutfreund, Niklas
;
Belaud-Rotureau, Marc-Antoine
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.24432. , 2022
Link:
https://hal.science/hal-..
?
6
Integral Role of the Mitochondrial Ribosome in Supporting O..:
Kline, Brianna L
;
Jaillard, Sylvie
;
Bell, Katrina M
...
info:eu-repo/semantics/altIdentifier/doi/10.3390/genes13112113. , 2022
Link:
https://hal.science/hal-..
?
7
Premature Ovarian Insufficiency in CLPB Deficiency: Transcr..:
Tucker, Elena J
;
Baker, Megan J
;
Hock, Daniella H
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9693831/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
8
Premature ovarian insufficiency in CLPB deficiency: transcr..:
Tucker, Elena J
;
Baker, Megan J
;
Hock, Daniella H
...
https://discovery.ucl.ac.uk/id/eprint/10155638/1/dgac528.pdf. , 2022
Link:
https://discovery.ucl.ac..
?
9
Dominant TP63 missense variants lead to constitutive activa..:
Tucker, Elena J
;
Gutfreund, Niklas
;
Belaud-Rotureau, Marc-Antoine
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.24432. , 2022
Link:
https://hal.science/hal-..
?
10
Integral Role of the Mitochondrial Ribosome in Supporting O..:
Kline, Brianna L
;
Jaillard, Sylvie
;
Bell, Katrina M
...
info:eu-repo/semantics/altIdentifier/doi/10.3390/genes13112113. , 2022
Link:
https://hal.science/hal-..
?
11
Integral Role of the Mitochondrial Ribosome in Supporting O..:
Kline, Brianna L
;
Jaillard, Sylvie
;
Bell, Katrina M
...
info:eu-repo/semantics/altIdentifier/doi/10.3390/genes13112113. , 2022
Link:
https://hal.science/hal-..
?
12
Dominant TP63 missense variants lead to constitutive activa..:
Tucker, Elena J
;
Gutfreund, Niklas
;
Belaud-Rotureau, Marc-Antoine
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.24432. , 2022
Link:
https://hal.science/hal-..
?
13
Meiotic genes in premature ovarian insufficiency: variants ..:
Tucker, Elena J
;
Bell, Katrina M
;
Robevska, Gorjana
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821714/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
14
STAG3 homozygous missense variant causes primary ovarian in..:
Jaillard, Sylvie
;
Mcelreavy, Kenneth
;
Robevska, Gorjana
...
info:eu-repo/semantics/altIdentifier/doi/10.1093/molehr/gaaa050. , 2020
Link:
https://hal.science/hal-..
?
15
STAG3 homozygous missense variant causes primary ovarian in..:
Jaillard, Sylvie
;
Mcelreavy, Kenneth
;
Robevska, Gorjana
...
info:eu-repo/semantics/altIdentifier/doi/10.1093/molehr/gaaa050. , 2020
Link:
https://hal.science/hal-..
1-15
