Mari Mori

Nationwide Children's Hospital - Columbus / United States

Natural Sciences / Molecular Biology & Genetics

AD Scientific Index ID: 4608943

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Mari Mori's MOST POPULAR ARTICLES

1-) Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c. 2970_2972del): an update of genotype–phenotype correlationM Koczkowska, T Callens, A Gomes, A Sharp, Y Chen, AD Hicks, ...Genetics in medicine 21 (4), 867-876, 2019622019

2-) Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDGP Witters, S Tahata, R Barone, K Õunap, R Salvarinova, S Grønborg, ...Genetics in Medicine 22 (6), 1102-1107, 2020612020

3-) Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia?–Call for a long-term follow-up of premature loss of primary teethM Mori, SL DeArmey, TJ Weber, PS KishnaniBone reports 5, 228-232, 2016612016

4-) The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)A Abu-El-Haija, HV Reddi, H Wand, NC Rose, M Mori, E Qian, MF MurrayGenetics in Medicine 25 (5), 100803, 2023452023

5-) Anti-glomerular basement membrane disease treated with mycophenolate mofetil, corticosteroids, and plasmapheresis.M Mori, U Nwaogwugwu, GR Akers, RL McGillClinical Nephrology 80 (1), 67-71, 2013292013

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