E-LIB Suche - Ergebnisse für: Wasserstein, Melissa

1

Collaborative research efforts drive therapeutic advancemen..:

Malicdan, May Christine ; Adams, David R. ; Brooks, P.J....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107948 , 2024

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

2

The Brain Gene Registry: a data snapshot:

Baldridge, Dustin ; Kaster, Levi ; Sancimino, Catherine...
Journal of Neurodevelopmental Disorders. 16 (2024) 1 - p. , 2024

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

3

P874: Parental perspectives and experiences on the implicat..:

Paleologos, Katrina ; Kelly, Nicole ; Clarke, Megan..
Genetics in Medicine Open. 2 (2024) - p. 101788 , 2024

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

4

P500: Optimizing consent: An analysis of recruitment data f..:

Kelly, Nicole ; Paleologos, Katrina ; Clarke, Megan.
Genetics in Medicine Open. 2 (2024) - p. 101399 , 2024

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

5

Olipudase alfa enzyme replacement therapy reverses intersti..:

Wasserstein, Melissa ; Bonella, Francesco ; Giugliani, Roberto...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108075 , 2024

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

6

Consensus guidelines for the monitoring and management of m..:

Adang, Laura A. ; Bonkowsky, Joshua L. ; Boelens, Jaap Jan...
Cytotherapy. 26 (2024) 7 - p. 739-748 , 2024

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

7

Impact of homozygous p.Arg610del genotype on disease burden..:

Wasserstein, Melissa ; Kumar, Monica ; Armstrong, Nicole...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108076 , 2024

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

8

Using team-based precision medicine to advance understandin..:

Walkley, Steven U. ; Molholm, Sophie ; Jordan, Bryen..
Journal of Neurodevelopmental Disorders. 16 (2024) 1 - p. , 2024

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

9

Improvements in liver and lipid outcomes continue in childr..:

Lachmann, Robin ; Ganesh, Jaya ; Giugliani, Roberto...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107927 , 2024

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

10

Are we prepared to deliver gene‐targeted therapies for rare..:

Yu, Timothy W. ; Kingsmore, Stephen F. ; Green, Robert C....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 1 - p. 7-12 , 2023

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

11

P349: Plasma lyso-sphingomyelin, biomarker for acid sphingo..:

Wasserstein, Melissa ; Giugliani, Roberto ; Jones, Simon...
Genetics in Medicine Open. 1 (2023) 1 - p. 100377 , 2023

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

12

P318: Impact of genetic counseling using GUÍA on diverse fa..:

Suckiel, Sabrina ; Kelly, Nicole ; Odgis, Jacqueline...
Genetics in Medicine Open. 1 (2023) 1 - p. 100346 , 2023

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

13

P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMEN..:

Villarrubia, Jesus ; Ganesh, Jaya ; Giugliani, Roberto...
HemaSphere. 7 (2023) S3 - p. e18031f6 , 2023

Link: https://doi.org/10.1097/..

14

Identification of copy number variants with genome sequenci..:

Bonini, Katherine E. ; Thomas‐Wilson, Amanda ; Marathe, Priya N....
Clinical Genetics. 104 (2023) 2 - p. 210-225 , 2023

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

15

Consensus clinical management guidelines for acid sphingomy..:

Geberhiwot, Tarekegn ; Wasserstein, Melissa ; Wanninayake, Subadra...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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