E-LIB Suche - Ergebnisse für: Gallagher, Renata C.

1

Severity-adjusted evaluation of liver transplantation on he..:

Posset, Roland ; Garbade, Sven F. ; Gleich, Florian...
Genetics in Medicine. 26 (2024) 4 - p. 101039 , 2024

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

2

41-Year-Old Male with Sub-Acute Encephalopathy, Seizures, a..:

Wais, Tameena ; Ibarra, Karen P. ; Sudarshana, Dattanand M....
The Neurohospitalist. 14 (2023) 1 - p. 69-73 , 2023

Link: https://doi.org/10.1177/..

3

Continued improvement in disease manifestations of acid sph..:

Wasserstein, Melissa P. ; Lachmann, Robin ; Hollak, Carla...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

4

Author Correction: Diagnostic yield of pediatric and prenat..:

Slavotinek, Anne ; Rego, Shannon ; Sahin-Hodoglugil, Nuriye...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

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

5

Phase 1/2 study update of an AAV9-based gene therapy for Ga..:

Neuhaus, Sarah ; Lewis, Travis B. ; Tamburri, Paul A....
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107238 , 2023

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

6

Diagnostic yield of pediatric and prenatal exome sequencing..:

Slavotinek, Anne ; Rego, Shannon ; Sahin-Hodoglugil, Nuriye...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

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

7

Relationship between longitudinal changes in neuropsycholog..:

Lichter-Konecki, Uta ; Sanz, Jacqueline H. ; Ah Mew, Nicholas...
Pediatric Research. 94 (2023) 6 - p. 2005-2015 , 2023

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

8

A randomized, placebo-controlled clinical trial evaluating ..:

Wasserstein, Melissa ; Lachmann, Robin ; Hollak, Carla...
Genetics in Medicine. 24 (2022) 7 - p. 1425-1436 , 2022

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

9

Functional genomics of OCTN2 variants informs protein-speci..:

Koleske, Megan L. ; McInnes, Gregory ; Brown, Julia E. H....
Proceedings of the National Academy of Sciences. 119 (2022) 46 - p. , 2022

Link: https://doi.org/10.1073/..

10

Fetal therapies and trials for lysosomal storage diseases: ..:

Schwab, Marisa E. ; Brown, Julia E. H. ; Lianoglou, Billie...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

11

Two-year results of the ASCEND trial of olipudase alfa adul..:

Wasserstein, Melissa P. ; Barbato, Antonio ; Gallagher, Renata C....
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S126-S127 , 2022

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

12

Application of full-genome analysis to diagnose rare monoge..:

Shieh, Joseph T. ; Penon-Portmann, Monica ; Wong, Karen H. Y....
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

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

13

Opportunities and challenges for the computational interpre..:

McInnes, Gregory ; Sharo, Andrew G. ; Koleske, Megan L....
The American Journal of Human Genetics. 108 (2021) 4 - p. 535-548 , 2021

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

14

The Use of Whole Genome and Exome Sequencing for Newborn Sc..:

Woerner, Audrey C. ; Gallagher, Renata C. ; Vockley, Jerry.
Frontiers in Pediatrics. 9 (2021) - p. , 2021

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

15

In utero enzyme replacement therapy in fetuses with lysosom..:

Schwab, Marisa E. ; Cohen, Jennifer L. ; Lianoglou, Billie...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S96 , 2021

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