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Works (5)

Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins

Clinical Genetics
2021-11 | Journal article
DOI: 10.1111/cge.14033
Contributors: Smrithi Salian; Marcello Scala; Thi Tuyet Mai Nguyen; Mariasavina Severino; Andrea Accogli; Elisabetta Amadori; Annalaura Torella; Michele Pinelli; Beth Hudson; Megan Boothe et al.
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PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations

Clinical Genetics
2021-02 | Journal article
DOI: 10.1111/cge.13877
Contributors: 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 et al.
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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
2020-11 | Journal article
DOI: 10.1002/jimd.12278
Contributors: 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 et al.
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MYSM1 maintains ribosomal protein gene expression in hematopoietic stem cells to prevent hematopoietic dysfunction

JCI Insight
2020-07-09 | Journal article
DOI: 10.1172/jci.insight.125690
Contributors: Jad I. Belle; HanChen Wang; Amanda Fiore; Jessica C. Petrov; Yun Hsiao Lin; Chu-Han Feng; Thi Tuyet Mai Nguyen; Jacky Tung; Philippe M. Campeau; Uta Behrends et al.
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Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders

Clinical Genetics
2019-01 | Journal article
DOI: 10.1111/cge.13425
Contributors: Kara Bellai‐Dussault; Thi Tuyet Mai Nguyen; Nissan V. Baratang; Daniel A. Jimenez‐Cruz; Philippe M. Campeau
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