Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Leslie, Nancy D.
1437  Ergebnisse:
Personensuche X
?
1

Newborn screening for lysosomal disorders: The Ohio experie..:

Berry, Lisa ; Linard, Sharon ; Leslie, Nancy.
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S23 , 2022
Link: https://doi.org/10.1016/..
 
?
2

Motor Responses in Pediatric Pompe Disease in the ADVANCE P..:

Duong, Tina ; Kishnani, Priya S. ; An Haack, Kristina...
Journal of Neuromuscular Diseases.  9 (2022)  6 - p. 713-730 , 2022
Link: https://doi.org/10.3233/..
 
?
3

A Qualitative Study: Mothers' Experiences of Their Child's ..:

Crossen, Kaylee ; Berry, Lisa ; Myers, Melanie F...
International Journal of Neonatal Screening.  8 (2022)  3 - p. 43 , 2022
Link: https://doi.org/10.3390/..
 
?
4

Clinically available testing options resulting in diagnosis..:

Baker, Elizabeth K. ; Ulm, Elizabeth A. ; Belonis, Alyce...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
?
5

A Novel Variant of ATP5MC3 Associated with Both Dystonia an..:

Neilson, Derek E. ; Zech, Michael ; Hufnagel, Robert B....
Movement Disorders.  37 (2021)  2 - p. 375-383 , 2021
Link: https://doi.org/10.1002/..
 
?
6

Cardiac responses in paediatric Pompe disease in the ADVANC..:

Byrne, Barry J. ; Colan, Steven D. ; Kishnani, Priya S....
Cardiology in the Young.  32 (2021)  3 - p. 364-373 , 2021
Link: https://doi.org/10.1017/..
 
?
7

A comparison of clinical outcomes and transplant complicati..:

Wehmeyer, Connie ; Mack, Allison ; Bailey, Laurie..
Molecular Genetics and Metabolism.  129 (2020)  2 - p. S161 , 2020
Link: https://doi.org/10.1016/..
 
?
8

Participant choices for return of genomic results in the eM..:

Hoell, Christin ; Wynn, Julia ; Rasmussen, Luke V....
Genetics in Medicine.  22 (2020)  11 - p. 1821-1829 , 2020
Link: https://doi.org/10.1038/..
 
?
9

GAAvariants and phenotypes among 1,079 patients with Pompe ..:

Reuser, Arnold J. J. ; Ploeg, Ans T. ; Chien, Yin‐Hsiu...
Human Mutation.  40 (2019)  11 - p. 2146-2164 , 2019
Link: https://doi.org/10.1002/..
 
?
10

Expanding and Underscoring the Hepato‐Encephalopathic Pheno..:

Russell, Bianca E. ; Whaley, Kaitlin G. ; Bove, Kevin E....
Hepatology.  70 (2019)  3 - p. 1066-1070 , 2019
Link: https://doi.org/10.1002/..
 
?
11

EMPOWERS: A phase 1/2 clinical trial of SB-318 ZFN-mediated..:

Harmatz, Paul ; Lau, Heather A. ; Heldermon, Coy...
Molecular Genetics and Metabolism.  126 (2019)  2 - p. S68 , 2019
Link: https://doi.org/10.1016/..
 
?
12

Clinical characteristics and genotypes in the ADVANCE basel..:

Kishnani, Priya S. ; Gibson, James B. ; Gambello, Michael J....
Genetics in Medicine.  21 (2019)  11 - p. 2543-2551 , 2019
Link: https://doi.org/10.1038/..
 
?
13

Front Cover, Volume 40, Issue 11:

Reuser, Arnold J. J. ; Ploeg, Ans T. ; Chien, Yin‐Hsiu...
Human Mutation.  40 (2019)  11 - p. , 2019
Link: https://doi.org/10.1002/..
 
?
14

Update on phase 1/2 clinical trials for MPS I and MPS II us..:

Harmatz, Paul ; Muenzer, Joseph ; Burton, Barbara K....
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S59-S60 , 2018
Link: https://doi.org/10.1016/..
 
?
15

Efficacy, safety profile, and immunogenicity of alglucosida..:

Hahn, Si Houn ; Kronn, David ; Leslie, Nancy D....
Genetics in Medicine.  20 (2018)  10 - p. 1284-1294 , 2018
Link: https://doi.org/10.1038/..
 
1-15