Publications by authors named "Grace Noh"

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Prevalence of Helicobacter pylori Infection and Micronutrient Deficiencies in a Clinically Referred Cohort of Ezidi Refugees in Rural Armidale: Findings from a Retrospective Study.
Grace Noh, Nelson Tran, Oliver McMorran, Edric Hu, Joëlle V F Coumans

J Immigr Minor Health· December 2025

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Case report: Lysine improvement in siblings with glutaric acidemia type 1 following reduced medical food intake: Implications for amino acid absorption and reabsorption.
Grace Noh, Jariya Upadia

Mol Genet Metab Rep· December 2025

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Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes.
Jariya Upadia, Grace Noh, Kea Crivelly, Elise Aziz, Amy Cunningham

Int J Neonatal Screen· December 2025

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Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report.
Jariya Upadia, Grace Noh, Kea Crivelly, Jennifer Smith, Hans C Andersson

Mol Genet Metab Rep· September 2025

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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Elisa Cali, Tania Quirin, Clarissa Rocca, Stephanie Efthymiou, Antonella Riva, Grace J Noh

Genet Med· April 2025

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Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect.
Jariya Upadia, Kea Crivelly, Grace Noh, Amy Cunningham, Caroline Cerminaro

Mol Genet Metab Rep· March 2024

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Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience.
Jariya Upadia, Grace Noh, John J Lefante, Hans C Andersson

Mol Genet Metab Rep· December 2023

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HSD10 disease in a female: A case report and review of literature.
Jariya Upadia, Nicolette Walano, Grace S Noh, Jiao Liu, Yuwen Li

JIMD Rep· November 2021

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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Alison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, Iris M de Lange, Jasper J van der Smagt, Grace Noh

Genet Med· May 2021

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Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Anna Fliedner, Philipp Kirchner, Antje Wiesener, Irma van de Beek, Quinten Waisfisz, Grace J Noh

Am J Hum Genet· September 2020

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Medical Decision Support to Reduce Unwarranted Methylene Tetrahydrofolate Reductase (MTHFR) Genetic Testing.
Emily Parkhurst, Elise Calonico, Grace Noh

J Med Syst· July 2020

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Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
Simon Edvardson, Claudia M Nicolae, Grace J Noh, Jennifer E Burton, Giuseppe Punzi

Am J Hum Genet· January 2019

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Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
Deborah Krakow, Daniel H Cohn, William R Wilcox, Grace J Noh, Leslie J Raffel

Am J Med Genet A· October 2016

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Clinical review of genetic epileptic encephalopathies.
Grace J Noh, Y Jane Tavyev Asher, John M Graham

Eur J Med Genet· May 2012

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2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
Grace J Noh, John M Graham

Eur J Med Genet· May 2012

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2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
Grace J Noh, John M Graham

Eur J Med Genet· January 2012

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Angiotensin II-accelerated atherosclerosis and aneurysm formation is attenuated in osteopontin-deficient mice.
Dennis Bruemmer, Alan R Collins, Grace Noh, Wei Wang, Mary Territo

J Clin Invest· November 2003

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Synthetic LXR ligand inhibits the development of atherosclerosis in mice.
Sean B Joseph, Elaine McKilligin, Liming Pei, Michael A Watson, Alan R Collins, Grace Noh

Proc Natl Acad Sci U S A· May 2002

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