E-LIB Suche - Ergebnisse für: Bell, Katrina M.

1

Diverse genetic causes of amenorrhea in an ethnically homog..:

Bakhshalizadeh, Shabnam ; Afkhami, Fateme ; Bell, Katrina M....
Molecular and Cellular Endocrinology. 587 (2024) - p. 112212 , 2024

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

2

A Human Homozygous HELQ Missense Variant Does Not Cause Pre..:

Bakhshalizadeh, Shabnam ; Bird, Anthony D. ; Sreenivasan, Rajini...
Genes. 15 (2024) 3 - p. 333 , 2024

Link: https://doi.org/10.3390/..

3

Biallelic FANCA variants detected in sisters with isolated ..:

Tucker, Elena J. ; Sharp, Michael F. ; Lokchine, Anna...
Clinical Genetics. , 2024

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

4

Deficiency of the mitochondrial ribosomal subunit, MRPL50, ..:

Bakhshalizadeh, Shabnam ; Hock, Daniella H. ; Siddall, Nicole A....
Human Genetics. 142 (2023) 7 - p. 879-907 , 2023

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

5

Modeling human skeletal development using human pluripotent..:

Lamandé, Shireen R. ; Ng, Elizabeth S. ; Cameron, Trevor L....
Proceedings of the National Academy of Sciences. 120 (2023) 19 - p. , 2023

Link: https://doi.org/10.1073/..

6

Dominant TP63 missense variants lead to constitutive activa..:

Tucker, Elena J. ; Gutfreund, Niklas ; Belaud‐Rotureau, Marc‐Antoine...
Human Mutation. 43 (2022) 10 - p. 1443-1453 , 2022

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

7

Premature Ovarian Insufficiency in CLPB Deficiency: Transcr..:

Tucker, Elena J ; Baker, Megan J ; Hock, Daniella H...
The Journal of Clinical Endocrinology & Metabolism. 107 (2022) 12 - p. 3328-3340 , 2022

Link: https://doi.org/10.1210/..

8

Integral Role of the Mitochondrial Ribosome in Supporting O..:

Kline, Brianna L. ; Jaillard, Sylvie ; Bell, Katrina M....
Genes. 13 (2022) 11 - p. 2113 , 2022

Link: https://doi.org/10.3390/..

9

A recessive variant in TFAM causes mtDNA depletion associat..:

Ullah, Farid ; Rauf, Waqar ; Khan, Kamal...
Human Genetics. 140 (2021) 12 - p. 1733-1751 , 2021

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

10

Pathogenic variants in nucleoporin TPR (translocated promot..:

Van Bergen, Nicole J ; Bell, Katrina M ; Carey, Kirsty...
Human Molecular Genetics. 31 (2021) 3 - p. 362-375 , 2021

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

11

Meiotic genes in premature ovarian insufficiency: variants ..:

Tucker, Elena J. ; Bell, Katrina M. ; Robevska, Gorjana...
European Journal of Human Genetics. 30 (2021) 2 - p. 219-228 , 2021

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

12

TP63‐truncating variants cause isolated premature ovarian i..:

Tucker, Elena J. ; Jaillard, Sylvie ; Grover, Sonia R....
Human Mutation. , 2019

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

13

The role of cardiac transcription factor NKX2-5 in regulati..:

Arasaratnam, Deevina ; Bell, Katrina M. ; Sim, Choon Boon...
Scientific Reports. 9 (2019) 1 - p. , 2019

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

14

Publisher Correction: The role of cardiac transcription fac..:

Arasaratnam, Deevina ; Bell, Katrina M. ; Sim, Choon Boon...
Scientific Reports. 9 (2019) 1 - p. , 2019

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

15

ADAMTS-9 in Mouse Cartilage Has Aggrecanase Activity That I..:

Rogerson, Fraser M. ; Last, Karena ; Golub, Suzanne B....
International Journal of Molecular Sciences. 20 (2019) 3 - p. 573 , 2019

Link: https://doi.org/10.3390/..