E-LIB Suche - Ergebnisse für: Yuki, Kyoko E.

1

A systematic assessment of the impact of rare canonical spl..:

Oh, Rachel Y. ; AlMail, Ali ; Cheerie, David...
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100299 , 2024

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

2

A novel deep intronic variant in LAMA2 identified by RNA se..:

Djordjevic, Djurdja ; Alawneh, Issa ; Amburgey, Kimberly...
Neuromuscular Disorders. 39 (2024) - p. 19-23 , 2024

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

3

Trio RNA sequencing in a cohort of medically complex childr..:

Deshwar, Ashish R. ; Yuki, Kyoko E. ; Hou, Huayun...
The American Journal of Human Genetics. 110 (2023) 5 - p. 895-900 , 2023

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

4

Buffering of transcription rate by mRNA half-life is a cons..:

Rodrigues, Deivid C. ; Mufteev, Marat ; Yuki, Kyoko E....
Nature Communications. 14 (2023) 1 - p. , 2023

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

5

Titin related myopathy with ophthalmoplegia. A novel phenot..:

Alawneh, Issa ; Yuki, Kyoko E. ; Amburgey, Kimberly...
Neuromuscular Disorders. 33 (2023) 7 - p. 605-609 , 2023

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

6

The clinical utility of integrative genomics in childhood c..:

Villani, Anita ; Davidson, Scott ; Kanwar, Nisha...
Nature Cancer. 4 (2022) 2 - p. 203-221 , 2022

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

7

Biallelic loss-of-function variants in RABGAP1 cause a nove..:

Oh, Rachel Youjin ; Deshwar, Ashish R. ; Marwaha, Ashish...
Genetics in Medicine. 24 (2022) 11 - p. 2399-2407 , 2022

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

8

A Chromosomal Duplication Encompassing Interleukin-33 Cause..:

Marwaha, Ashish K. ; Laxer, Ronald ; Liang, Minggao...
Gastroenterology. 163 (2022) 2 - p. 510-513.e3 , 2022

Link: https://doi.org/10.1053/..

9

Postnatal developmental trajectory of sex-biased gene expre..:

Hou, Huayun ; Chan, Cadia ; Yuki, Kyoko E....
Biology of Sex Differences. 13 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

10

Hypomorphic GINS3 variants alter DNA replication and cause ..:

McQuaid, Mary E. ; Ahmed, Kashif ; Tran, Stephanie...
JCI Insight. 7 (2022) 10 - p. , 2022

Link: https://doi.org/10.1172/..

11

X-linked myotubular myopathy is associated with epigenetic ..:

Volpatti, Jonathan R. ; Ghahramani-Seno, Mehdi M. ; Mansat, Mélanie...
Acta Neuropathologica. 144 (2022) 3 - p. 537-563 , 2022

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

12

Identification of TIA1 mRNA targets during human neuronal d..:

Byres, Loryn P. ; Mufteev, Marat ; Yuki, Kyoko E....
Molecular Biology Reports. 48 (2021) 9 - p. 6349-6361 , 2021

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

13

Lineage-defined leiomyosarcoma subtypes emerge years before..:

Anderson, Nathaniel D. ; Babichev, Yael ; Fuligni, Fabio...
Nature Communications. 12 (2021) 1 - p. , 2021

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

14

MON-725 Transcriptome Profiling in Postnatal Pituitary Glan..:

Palmert, Mark ; Wilson, Michael D ; Zhang, Zhaolei...
Journal of the Endocrine Society. 4 (2020) Supplement_1 - p. , 2020

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

15

Genetic Dissection of the Ity3 Locus Identifies a Role for ..:

Khan, Rabia Tahir ; Chevenon, Marie ; Yuki, Kyoko E..
Frontiers in Immunology. 5 (2014) - p. , 2014

Link: https://doi.org/10.3389/..