E-LIB Suche - Ergebnisse für: Han, Sangwoo T.

1

GM1 gangliosidosis type II: Results of a 10-year prospectiv..:

D'Souza, Precilla ; Farmer, Cristan ; Johnston, Jean M....
Genetics in Medicine. 26 (2024) 7 - p. 101144 , 2024

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

2

Two rare variants that affect the same amino acid in CFTR h..:

Li, Hongyu ; Rodrat, Mayuree ; Al‐Salmani, Majid K....
The Journal of Physiology. 602 (2024) 2 - p. 333-354 , 2024

Link: https://doi.org/10.1113/..

3

A test of automated use of electronic health records to aid..:

Cassini, Thomas ; Bastarache, Lisa ; Zeng, Chenjie...
Genetics in Medicine. 25 (2023) 12 - p. 100966 , 2023

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

4

Glb1 knockout mouse model shares natural history with type ..:

Nicoli, Elena-Raluca ; Huebecker, Mylene ; Han, Sangwoo T....
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107508 , 2023

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

5

Gene expression changes in Tay–Sachs disease begin early in..:

Han, Sangwoo T. ; Hirt, Ashley ; Nicoli, Elena‐Raluca...
Journal of Inherited Metabolic Disease. 46 (2023) 4 - p. 687-694 , 2023

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

6

A promoter variant in the OTC gene associated with late and..:

Han, Sangwoo T. ; Anderson, Katherine J. ; Bjornsson, Hans T...
Journal of Inherited Metabolic Disease. 45 (2022) 4 - p. 710-718 , 2022

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

7

Storage of GM2 ganglioside and altered gene expression in i..:

Han, Sangwoo T. ; Nicoli, Elena-Raluca ; Kono, Mari...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S53 , 2022

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

8

PUS7 deficiency in human patients causes profound neurodeve..:

Han, Sangwoo T. ; Kim, Andrew C. ; Garcia, Karolyn...
Molecular Genetics and Metabolism. 135 (2022) 3 - p. 221-229 , 2022

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

9

Molecular Genetics of Cystic Fibrosis:

, In: Respiratory Medicine; Cystic Fibrosis,

Han, Sangwoo T. ; Cutting, Garry R. - p. 467-481 , 2020

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

10

Capitalizing on the heterogeneous effects of CFTR nonsense ..:

Sharma, Neeraj ; Evans, Taylor A. ; Pellicore, Matthew J....
PLOS Genetics. 14 (2018) 11 - p. e1007723 , 2018

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

11

Transformative therapies for rare CFTR missense alleles:

Oliver, Kathryn E ; Han, Sangwoo T ; Sorscher, Eric J.
Current Opinion in Pharmacology. 34 (2017) - p. 76-82 , 2017

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

12

Loss of carbonic anhydrase XII function in individuals with..:

Lee, Melissa ; Vecchio-Pagán, Briana ; Sharma, Neeraj...
Human Molecular Genetics. 25 (2016) 10 - p. 1923-1933 , 2016

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

13

Creation and characterization of an airway epithelial cell ..:

Gottschalk, Laura B. ; Vecchio-Pagan, Briana ; Sharma, Neeraj...
Journal of Cystic Fibrosis. 15 (2016) 3 - p. 285-294 , 2016

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

14

PUS7 deficiency in human patients causes profound neurodeve..:

Han, Sangwoo T ; Kim, Andrew C ; Garcia, Karolyn...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958514/. , 2022

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

15

A promoter variant in the OTC gene associated with late and..:

Han, Sangwoo T ; Anderson, Katherine J ; Bjornsson, Hans T..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10323875/. , 2022

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