E-LIB Suche - Ergebnisse für: Tchan, Michel C.

1

Genome sequencing reanalysis increases the diagnostic yield..:

Fellner, Avi ; Wali, Gurusidheshwar M. ; Mahant, Neil...
Parkinsonism & Related Disorders. 124 (2024) - p. 107010 , 2024

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

2

DHDDS and NUS1: A Converging Pathway and Common Phenotype:

Williams, Laura J. ; Waller, Sophie ; Qiu, Jessica...
Movement Disorders Clinical Practice. 11 (2023) 1 - p. 76-85 , 2023

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

3

Glycogen storage disease type IIIa in pregnant women: A gui..:

Beneru, Demi ; Tchan, Michel C. ; Billmore, Kate.
JIMD Reports. 63 (2022) 3 - p. 216-220 , 2022

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

4

Integral Role of the Mitochondrial Ribosome in Supporting O..:

Kline, Brianna L. ; Jaillard, Sylvie ; Bell, Katrina M....
Genes. 13 (2022) 11 - p. 2113 , 2022

Link: https://doi.org/10.3390/..

5

Electrocardiographic Characteristics and Their Correlation ..:

Zada, Matthew ; Lo, Queenie ; Trivedi, Siddharth J....
Journal of Cardiovascular Development and Disease. 9 (2022) 1 - p. 11 , 2022

Link: https://doi.org/10.3390/..

6

Recurrent Biallelic p.L347P PINK1 Variant in Polynesians wi..:

Morales‐Briceno, Hugo ; Ong, Tien Lee ; Duma, Stephen R....
Movement Disorders Clinical Practice. 9 (2022) 5 - p. 696-697 , 2022

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

7

PTC923 (sepiapterin) lowers elevated blood phenylalanine in..:

Bratkovic, Drago ; Margvelashvili, Lali ; Tchan, Michel C...
Metabolism. 128 (2022) - p. 155116 , 2022

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

8

A novel synonymous KMT2B variant in a patient with dystonia..:

Grosz, Bianca R. ; Tisch, Stephen ; Tchan, Michel C....
Molecular Genetics & Genomic Medicine. 10 (2022) 5 - p. , 2022

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

9

Diffusion kurtosis imaging detects subclinical white matter..:

Hellewell, Sarah C. ; Welton, Thomas ; Eisenhuth, Kate..
NeuroImage: Clinical. 29 (2021) - p. 102555 , 2021

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

10

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) tre..:

van Rijt, Willemijn J. ; Jager, Emmalie A. ; Allersma, Derk P....
Genetics in Medicine. 22 (2020) 5 - p. 908-916 , 2020

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

11

Novel Mutations Found in Individuals with Adult-Onset Pompe..:

Aung-Htut, May T. ; Ham, Kristin A. ; Tchan, Michel C...
Genes. 11 (2020) 2 - p. 135 , 2020

Link: https://doi.org/10.3390/..

12

Whole genome sequencing for the genetic diagnosis of hetero..:

Kumar, Kishore R. ; Davis, Ryan L. ; Tchan, Michel C....
Parkinsonism & Related Disorders. 69 (2019) - p. 111-118 , 2019

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

13

Adenine Phosphoribosyltransferase Deficiency: A Potentially..:

Li, Jennifer ; Shingde, Meena ; Nankivell, Brian J....
Kidney International Reports. 4 (2019) 8 - p. 1161-1170 , 2019

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

14

Psychiatric adult-onset of urea cycle disorders: A case-ser..:

Bigot, Adrien ; Brunault, Paul ; Lavigne, Christian...
Molecular Genetics and Metabolism Reports. 12 (2017) - p. 103-109 , 2017

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

15

Liver involvement in urea cycle disorders: a review of the ..:

Bigot, Adrien ; Tchan, Michel C. ; Thoreau, Benjamin..
Journal of Inherited Metabolic Disease. 40 (2017) 6 - p. 757-769 , 2017

Link: https://doi.org/10.1007/..