E-LIB Suche - Ergebnisse für: Cody, Neal

1

Clinical Pharmacogenomic MT‐RNR1 Screening for Aminoglycosi..:

Rigobello, Robert ; Shaw, Jay ; Ilg, Daniel...
Clinical Pharmacology & Therapeutics. 114 (2023) 2 - p. 262-265 , 2023

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

2

P031: Fabry disease: Genotype/phenotype correlations for 17..:

Cody, Neal ; Phua, Yu Leng ; Li, Wenjiao...
Genetics in Medicine Open. 1 (2023) 1 - p. 100041 , 2023

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

3

P023: The clinical utility of plasma Lyso-Gb3 in the diagno..:

Li, Wenjiao ; Stauffer, Brandon ; Chen, Hongjie...
Genetics in Medicine Open. 1 (2023) 1 - p. 100033 , 2023

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

4

eP109: Clinical efficacy of next-generation sequencing pane..:

Suer, Funda ; Mazur, Zehra ; Zhang, Ying...
Genetics in Medicine. 24 (2022) 3 - p. S69-S70 , 2022

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

5

Long‐read HiFi sequencing ofNUDT15: Phased full‐gene haplot..:

Scott, Erick R. ; Yang, Yao ; Botton, Mariana R....
Human Mutation. 43 (2022) 11 - p. 1557-1566 , 2022

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

6

Clinical Pharmacogenetics Implementation Consortium Guideli..:

McDermott, John Henry ; Wolf, Joshua ; Hoshitsuki, Keito...
Clinical Pharmacology & Therapeutics. 111 (2021) 2 - p. 366-372 , 2021

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

7

Persistent mRNA localization defects and cell death in ALS ..:

Markmiller, Sebastian ; Sathe, Shashank ; Server, Kari L....
Cell Reports. 36 (2021) 10 - p. 109685 , 2021

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

8

Author Correction: A large-scale binding and functional map..:

Van Nostrand, Eric L. ; Freese, Peter ; Pratt, Gabriel A....
Nature. 589 (2021) 7842 - p. E5-E5 , 2021

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

9

Development and Analytical Validation of a 29 Gene Clinical..:

Scott, Stuart A. ; Scott, Erick R. ; Seki, Yoshinori...
Clinical and Translational Science. 14 (2020) 1 - p. 204-213 , 2020

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

10

A large-scale binding and functional map of human RNA-bindi..:

Van Nostrand, Eric L. ; Freese, Peter ; Pratt, Gabriel A....
Nature. 583 (2020) 7818 - p. 711-719 , 2020

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

11

Clinical Pharmacogenetic Testing and the Posttest Counselin..:

Rigobello, Robert ; Rahawi, Shahad ; Wallsten, Richard...
Clinical Pharmacology & Therapeutics. 108 (2020) 5 - p. 924-928 , 2020

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

12

DPH1 syndrome: two novel variants and structural and functi..:

Urreizti, Roser ; Mayer, Klaus ; Evrony, Gilad D....
European Journal of Human Genetics. 28 (2019) 1 - p. 64-75 , 2019

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

13

Acute hepatic porphyrias: Identification of 46 hydroxymethy..:

Loskove, Yonina ; Yasuda, Makiko ; Chen, Brenden...
Molecular Genetics and Metabolism. 128 (2019) 3 - p. 352-357 , 2019

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

14

Correction: DPH1 syndrome: two novel variants and structura..:

Urreizti, Roser ; Mayer, Klaus ; Evrony, Gilad D....
European Journal of Human Genetics. 28 (2019) 1 - p. 138-138 , 2019

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

15

CeFra-seq: Systematic mapping of RNA subcellular distributi..:

Lefebvre, Fabio Alexis ; Cody, Neal A.L. ; Bouvrette, Louis Philip Benoit...
Methods. 126 (2017) - p. 138-148 , 2017

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