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Mei-Jan Chen

University of Alabama at Birmingham

4

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52

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Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies

2020 Human Genetics
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A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway

2019 Frontiers in Physiology
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Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study

2018 Orphanet Journal of Rare Diseases
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Neurofibromin (NF1) genetic variant structure–function analyses using a full‐length mouse cDNA

2018 Human Mutation
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Citations (11)