E-LIB Suche - Ergebnisse für: Tran, Luan T.

1

Solving inherited white matter disorder etiologies in the n..:

Perrier, Stefanie ; Guerrero, Kether ; Tran, Luan T....
Frontiers in Neurology. 14 (2023) - p. , 2023

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

2

Hypomyelination caused by a novel homozygous pathogenic var..:

Potic, Ana ; Perrier, Stefanie ; Radovic, Tijana...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

3

Biallelic pathogenic variants in POLR3D alter tRNA transcri..:

Macintosh, Julia ; Perrier, Stefanie ; Pinard, Maxime...
Frontiers in Neurology. 14 (2023) - p. , 2023

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

4

Longitudinal Characterization of the Clinical Course of Int..:

Chapleau, Alexandra ; Mirchi, Amytice ; Tran, Luan T...
Pediatric Neurology. 148 (2023) - p. 133-137 , 2023

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

5

Craniofacial features of POLR3-related leukodystrophy cause..:

Mirchi, Amytice ; Guay, Simon-Pierre ; Tran, Luan T...
Journal of Medical Genetics. 60 (2023) 10 - p. 1026-1034 , 2023

Link: https://doi.org/10.1136/..

6

The Experience of Parents of Children With Genetically Dete..:

Yazdani, Pouneh Amir ; St-Jean, Marie-Lou ; Matovic, Sara...
Journal of Child Neurology. 38 (2023) 5 - p. 329-335 , 2023

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

7

Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leu..:

Michell-Robinson, Mackenzie A. ; Perrier, Stefanie ; Lucia, Cassandra...
Neurology. 98 (2022) 16 - p. 675-677 , 2022

Link: https://doi.org/10.1212/..

8

A Cockayne-like phenotype resulting from a de novo variant ..:

Mirchi, Amytice ; Derksen, Alexa ; Tran, Luan T....
neurogenetics. 23 (2022) 4 - p. 271-274 , 2022

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

9

Experience of Parents of Children with Genetically Determin..:

Amir Yazdani, Pouneh ; St-Jean, Marie-Lou ; Matovic, Sara...
Journal of Child Neurology. 37 (2022) 4 - p. 237-245 , 2022

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

10

The LORIS MyeliNeuroGene rare disease database for natural ..:

Spahr, Aaron ; Rosli, Zaliqa ; Legault, Mélanie...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

11

A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular A..:

Derksen, Alexa ; Mirchi, Amytice ; Tran, Luan T....
Child Neurology Open. 8 (2021) - p. 2329048X2110274 , 2021

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

12

Variants in LSM7 impair LSM complexes assembly, neurodevelo..:

Derksen, Alexa ; Shih, Hung-Yu ; Forget, Diane...
Human Genetics and Genomics Advances. 2 (2021) 3 - p. 100034 , 2021

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

13

Online Video Stabilization Based on Converting Deep Dense O..:

, In: 2020 7th NAFOSTED Conference on Information and Computer Science (NICS),

Tran, Luan T. ; Ly, Ngoc Q. - p. 238-243 , 2020

Link: https://doi.org/10.1109/..

14

Endocrine and Growth Abnormalities in 4H Leukodystrophy Cau..:

Pelletier, Félixe ; Perrier, Stefanie ; Cayami, Ferdy K...
The Journal of Clinical Endocrinology & Metabolism. 106 (2020) 2 - p. e660-e674 , 2020

Link: https://doi.org/10.1210/..

15

Dystonia in RNA Polymerase III‐Related Leukodystrophy:

Al Yazidi, Ghalia ; Tran, Luan T. ; Guerrero, Kether...
Movement Disorders Clinical Practice. 6 (2019) 2 - p. 155-159 , 2019

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