E-LIB Suche - Ergebnisse für: Tanya L. Schwab

1

Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregati..:

Wilke, Matheus V. M. B. ; Wick, Myra ; Schwab, Tanya L....
Genes. 15 (2024) 1 - p. 112 , 2024

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

2

Impact of integrated translational research on clinical exo..:

Klee, Eric W. ; Cousin, Margot A. ; Pinto e Vairo, Filippo...
Genetics in Medicine. 25 (2023) 2 - p. 100359 , 2023

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

3

Bi-allelic variants in INTS11 are associated with a complex..:

Tepe, Burak ; Macke, Erica L. ; Niceta, Marcello...
The American Journal of Human Genetics. 110 (2023) 5 - p. 774-789 , 2023

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

4

Bi-allelic variants in HMGCR cause an autosomal-recessive p..:

Morales-Rosado, Joel A. ; Schwab, Tanya L. ; Macklin-Mantia, Sarah K....
The American Journal of Human Genetics. 110 (2023) 6 - p. 989-997 , 2023

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

5

eP183: Functional assessment of a novel POU4F3 missense var..:

Macke, Erica ; Schwab, Tanya ; Schimmenti, Lisa.
Genetics in Medicine. 24 (2022) 3 - p. S113-S114 , 2022

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

6

A Primer Genetic Toolkit for Exploring Mitochondrial Biolog..:

Sabharwal, Ankit ; Campbell, Jarryd M. ; Schwab, Tanya L....
Genes. 13 (2022) 8 - p. 1317 , 2022

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

7

Impact of integrated translational research on clinical exo..:

Klee, Eric W. ; Cousin, Margot A. ; Pinto e Vairo, Filippo...
Genetics in Medicine. 23 (2021) 3 - p. 498-507 , 2021

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

8

Designed architectural proteins that tune DNA looping in ba..:

Tse, David H ; Becker, Nicole A ; Young, Robert T...
Nucleic Acids Research. 49 (2021) 18 - p. 10382-10396 , 2021

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

9

LPCAT1-TERT fusions are uniquely recurrent in epithelioid t..:

Oliver, Gavin R. ; Marcano-Bonilla, Sofia ; Quist, Jonathan...
PLOS ONE. 16 (2021) 5 - p. e0250518 , 2021

Link: https://doi.org/10.1371/..

10

A homozygous missense variant in UBE2T is associated with a..:

Laura Schultz-Rogers ; Francis P. Lach ; Kimberly A. Rickman...
Haematologica. 106 (2020) 4 - p. 1188-1192 , 2020

Link: https://doi.org/10.3324/..

11

Characterization of Gene Repression by Designed Transcripti..:

Becker, Nicole A. ; Peters, Justin P. ; Schwab, Tanya L....
Biophysical Journal. 119 (2020) 10 - p. 2045-2054 , 2020

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

12

Haploinsufficiency as a disease mechanism in GNB1‐associate..:

Schultz‐Rogers, Laura ; Masuho, Ikuo ; Pinto e Vairo, Filippo...
Molecular Genetics & Genomic Medicine. 8 (2020) 11 - p. , 2020

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

13

Electrochemical Potential-Biological Activity Relationships..:

Khairan, Khairan ; Ba, Lalla Aïcha ; Burkholz, Torsten...
Current Pharmacology Reports. 5 (2019) 3 - p. 174-187 , 2019

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

14

Novel zebrafish behavioral assay to identify modifiers of t..:

Lee, Han B. ; Schwab, Tanya L. ; Sigafoos, Ashley N....
Genes, Brain and Behavior. 18 (2019) 2 - p. , 2019

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

15

A tailored approach to fusion transcript identification inc..:

Oliver, Gavin R. ; Tang, Xiaojia ; Schultz-Rogers, Laura E....
PLOS ONE. 14 (2019) 10 - p. e0223337 , 2019

Link: https://doi.org/10.1371/..