Concepedia

Joel Hughes

JH

2

Publications

62

Citations

2

H-Index

2019

Active since

Affiliations

National Institutes of Health(Current)

National Human Genome Research Institute

Joel Hughes is an author at National Institutes of Health specializing in disorders of sex development, urology, and genetics.

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Publications per year

2019–2020

2

Publications

2

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

Joel Hughes, Ebba Alkhunaizi, Paul Kruszka et al. · The American Journal of Human Genetics · 2019 · 46 citations · Full text

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Pitfalls in the Diagnosis of Hereditary Fructose Intolerance

Alexander Y. Kim, Joel Hughes, Angela Pipitone Dempsey et al. · PEDIATRICS · 2020 · 16 citations · Full text

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