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Fernando Scaglia

Baylor College of Medicine
Boston Children's Hospital
The Chinese University of Hong Kong

212

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In Memoriam: Professor Lee-Jun Wong, Ph.D.

2021 Molecular Genetics and Metabolism
- William J. Craigen
- Fernando Scaglia
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11979 Using whole-exome and mtDNA sequencing to develop a testing algorithm for diagnosis of mitochondrial disease in Puerto Ricans

2021
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TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation

2021 Molecular Genetics and Metabolism
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Expansion of the clinical phenotype of GALE deficiency.

2021 American Journal of Medical Genetics Part A
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Phylogenetic affinities and morphology of the Pliocene cathartiform Dryornis pampeanus Moreno & Mercerat

2021
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ALKALINE MAGMATIC EVENT POSTDATING THE BASALT FLOWS OF THE PARANÁ MAGMATIC PROVINCE IN NW URUGUAY

2021
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A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.

2021 American Journal of Medical Genetics Part A
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Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.

2020 American Journal of Medical Genetics Part A
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Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

2020 Molecular Genetics and Metabolism
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Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5

2020 Case reports in pediatrics
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