Thi Tuyet Mai Nguyen

Publication Activity (10 Years)

Years Active: 2018-2021
Publications (10 Years): 4

Top Topics

Endoplasmic Reticulum

Intellectual Disability

Top Venues

Clinical genetics

Journal of inherited metabolic disease

This page only lists publications with an associated author ORCID identifier.

Publications

Smrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, Mariasavina Severino, Andrea Accogli, Elisabetta Amadori, Anna Laura Torella, Michele Pinelli, Beth Hudson, Megan Boothe, Anna C E Hurst, Tawfeg Ben-Omran, Martin Jakob Larsen, Christina R Fagerberg, Lene Sperling, Ieva Miceikaite, Lucas Hérissant, Martine Doco-Fenzy, Mélanie Jennesson, Vincenzo Nigro, Pasquale Striano, Carlo Minetti, Rani K Sachdev, Emma Elizabeth Palmer, Valeria Capra, Philippe M Campeau
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins. Clinical genetics 100 (5) (2021)
Devon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, Kristin D Kernohan, Anik St-Denis, Nissan V Baratang, Taila Hartley, Michael T Geraghty, Julie Richer, Jacek Majewski, Eric Bareke, Andrea Guerin, Manuela Pendziwiat, Loren D M Pena, Hilde M H Braakman, Karen W Gripp, Andrew C Edmondson, Miao He, Rebecca C Spillmann, Erik A Eklund, Allan Bayat, Hugh J Mcmillan, Kym M Boycott, Philippe M Campeau
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. Journal of inherited metabolic disease 43 (6) (2020)
Camille Tremblay-Laganière, Rauan Kaiyrzhanov, Reza Maroofian, Thi Tuyet Mai Nguyen, Kamran Salayev, Ilana T Chilton, Wendy K Chung, Jill A Madden, Chanika Phornphutkul, Pankaj B Agrawal, Henry Houlden, Philippe M Campeau
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. Clinical genetics 99 (2) (2020)
Kara Bellai-Dussault, Thi Tuyet Mai Nguyen, Nissan V Baratang, Daniel A Jimenez-Cruz, Philippe M Campeau
Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders. Clinical genetics 95 (1) (2018)