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An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism
Jung Hyun Shin
, Go Hun Seo
, Seung Hwan Oh
, Woo Yeong Chung
, Hye Young Kim
, Young Mi Kim
, Mi Hye Bae
, Kyung Hee Park
, Min Jung Kwak
Ann Pediatr Endocrinol Metab.
2020;25(4):282-286. Published online December 31, 2020
DOI:
https://doi.org/10.6065/apem.2040076.038
Web of Science 1
Crossref 1
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Identification of a novel variant in the
PHEX
gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets
Ha Young Jo
, Jung Hyun Shin
, Hye Young Kim
, Young Mi Kim
, Heirim Lee
, Mi Hye Bae
, Kyung Hee Park
, Ja-Hyun Jang
, Min Jung Kwak
Ann Pediatr Endocrinol Metab.
2020;25(1):63-67. Published online March 31, 2020
DOI:
https://doi.org/10.6065/apem.2020.25.1.63
Web of Science 1
Crossref 2
Full text
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ePub
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1
Journal Impact Factor 2.8
Pediatrics Q1
ABOUT
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Principles of Transparency and Best Practice
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ARTICLE CATEGORY
Original Article
Review Article
Case Report
Others
Browse all articles >
BROWSE ARTICLES
New Issue
All Issues
Accepted
Ahead-of Print
Most View
Most Download
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Funded Articles
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AUTHOR INFORMATION
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