E-LIB Suche - Ergebnisse für: Ah Mew, Nicholas

1

Expedited Exome Reanalysis Following Deep Phenotyping and M..:

Pickup, Elizabeth ; Moore, Steven A. ; Suwannarat, Pim...
Pediatric Neurology. 156 (2024) - p. 178-181 , 2024

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

2

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/..

3

The functional impact of 1,570 individual amino acid substi..:

Lo, Russell S. ; Cromie, Gareth A. ; Tang, Michelle...
The American Journal of Human Genetics. 110 (2023) 5 - p. 863-879 , 2023

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

4

Prospective diagnosis of MT-ATP6-related mitochondrial dise..:

Peretz, Ryan H. ; Ah Mew, Nicholas ; Vernon, Hilary J..
Molecular Genetics and Metabolism. 134 (2021) 1-2 - p. 37-42 , 2021

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

5

The clinical and molecular spectrum ofQRICH1associated neur..:

Kumble, Smitha ; Levy, Amanda M. ; Punetha, Jaya...
Human Mutation. 43 (2021) 2 - p. 266-282 , 2021

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

6

Glycerol phenylbutyrate efficacy and safety from an open la..:

Longo, Nicola ; Diaz, George A. ; Lichter-Konecki, Uta...
Molecular Genetics and Metabolism. 132 (2021) 1 - p. 19-26 , 2021

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

7

From genotype to phenotype: Early prediction of disease sev..:

Zielonka, Matthias ; Garbade, Sven F. ; Gleich, Florian...
Human Mutation. 41 (2020) 5 - p. 946-960 , 2020

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

8

The E273del variant of uncertain significance of the ornith..:

Ducich, Nicole ; Ah Mew, Nicholas ; Bedoyan, Jirair K.
Molecular Genetics and Metabolism Reports. 23 (2020) - p. 100598 , 2020

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

9

Urea cycle disorders:

, In: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease,

Rossignol, Francis ; Ah Mew, Nicholas ; Meltzer, Meira R.. - p. 827-848 , 2020

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

10

Long-term effects of medical management on growth and weigh..:

Posset, Roland ; Garbade, Sven F. ; Gleich, Florian...
Scientific Reports. 10 (2020) 1 - p. , 2020

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

11

A pandemic will not stop metabolic innovation:

MacLeod, Erin ; Starin, Danielle ; Ah Mew, Nicholas.
Molecular Genetics and Metabolism. 130 (2020) 4 - p. 225-226 , 2020

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

12

Use of dexamethasone in idiopathic, acute pediatric rhabdom..:

Summerlin, Maxwell L. ; Regier, Debra S. ; Fraser, Jamie L....
American Journal of Medical Genetics Part A. 185 (2020) 2 - p. 500-507 , 2020

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

13

List of contributors:

, In: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease,

Ah Mew, Nicholas ; Akamatsu, Wado ; Akman, Hasan Orhan... - p. xvii-xx , 2020

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

14

Progress and challenges in development of new therapies for..:

Soria, Leandro R ; Ah Mew, Nicholas ; Brunetti-Pierri, Nicola
Human Molecular Genetics. 28 (2019) R1 - p. R42-R48 , 2019

Link: https://doi.org/10.1093/..

15

Conducting an investigator-initiated randomized double-blin..:

Ah Mew, Nicholas ; Cnaan, Avital ; McCarter, Robert...
Translational Science of Rare Diseases. 3 (2018) 3-4 - p. 157-170 , 2018

Link: https://doi.org/10.3233/..