E-LIB Suche - Ergebnisse für: Sondheimer, Neal

1

Author Correction: Interim analyses of a first-in-human pha..:

Koeberl, Dwight ; Schulze, Andreas ; Sondheimer, Neal...
Nature. 629 (2024) 8011 - p. E10-E10 , 2024

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

2

Interim analyses of a first-in-human phase 1/2 mRNA trial f..:

Koeberl, Dwight ; Schulze, Andreas ; Sondheimer, Neal...
Nature. 628 (2024) 8009 - p. 872-877 , 2024

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

3

De novo variants in RNF213 are associated with a clinical s..:

Brunet, Theresa ; Zott, Benedikt ; Lieftüchter, Victoria...
Genetics in Medicine. 26 (2024) 2 - p. 101013 , 2024

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

4

The live biotherapeutic SYNB1353 decreases plasma methionin..:

Perreault, Mylène ; Means, Jillian ; Gerson, Erik...
Cell Host & Microbe. 32 (2024) 3 - p. 382-395.e10 , 2024

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

5

Publisher Correction: Interim analyses of a first-in-human ..:

Koeberl, Dwight ; Schulze, Andreas ; Sondheimer, Neal...
Nature. 630 (2024) 8017 - p. E13-E13 , 2024

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

6

Comprehensive whole-genome sequence analyses provide insigh..:

Fehlings, Darcy L. ; Zarrei, Mehdi ; Engchuan, Worrawat...
Nature Genetics. 56 (2024) 4 - p. 585-594 , 2024

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

7

A Novel Transmembrane CXCR4 Variant That Expands the WHIM G..:

Zmajkovicova, Katarina ; Pawar, Sumit ; Sharapova, Svetlana O....
Blood Advances. , 2024

Link: https://doi.org/10.1182/..

8

Assessing the quality and value of metabolic chart data for..:

Ryan Iverson ; Monica Taljaard ; Michael T. Geraghty...
https://doi.org/10.1186/s12887-023-04393-4. , 2024

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

9

Additional file 1 of Assessing the quality and value of met..:

Ryan Iverson ; Monica Taljaard ; Michael T. Geraghty...
doi:10.6084/m9.figshare.24993673.v1. , 2024

Link: https://doi.org/10.6084/..

10

Corrigendum to Divergent Patterns of Mitochondrial and Nucl..:

Crawford, Nicholas ; Prendergast, D'Arcy ; Oehlert, John W....
The Journal of Pediatrics. 261 (2023) - p. 113345 , 2023

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

11

SYNB1353, A PROPOSED THERAPY FOR HOMOCYSTINURIA, LOWERS PLA..:

Sondheimer, Neal ; Lubkowicz, David ; Blasbalg, Julie...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107492 , 2023

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

12

Biallelic variants in ribonuclease inhibitor (RNH1), an inf..:

Shashi, Vandana ; Schoch, Kelly ; Ganetzky, Rebecca...
Genetics in Medicine. 25 (2023) 9 - p. 100897 , 2023

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

13

Whole Genome Sequencing to Resolve the Genomic Architecture..:

Oskoui, Maryam ; Zarrei, Mehdi ; Engchuan, Worrawat...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

Link: https://doi.org/10.1212/..

14

Biallelic pathogenic variants in the mitochondrial form of ..:

Sondheimer, Neal ; Aleman, Alberto ; Cameron, Jessie...
Human Genetics and Genomics Advances. 4 (2023) 2 - p. 100182 , 2023

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

15

Efficacy and safety of a synthetic biotic for treatment of ..:

Vockley, Jerry ; Sondheimer, Neal ; Puurunen, Marja...
Nature Metabolism. 5 (2023) 10 - p. 1685-1690 , 2023

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