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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2021 | 1 |
2022 | 2 |
2024 | 0 |
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A novel FLNA variant in a fetus with skeletal dysplasia.
Hum Genome Var. 2022 Dec 13;9(1):45. doi: 10.1038/s41439-022-00224-7.
Hum Genome Var. 2022.
PMID: 36509760
Free PMC article.
A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia.
Hori A, Migita O, Isogawa N, Takada F, Hata K.
Hori A, et al.
Hum Genome Var. 2022 May 20;9(1):17. doi: 10.1038/s41439-022-00186-w.
Hum Genome Var. 2022.
PMID: 35595744
Free PMC article.
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A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia.
Hori A, Migita O, Kawaguchi-Kawata R, Narumi-Kishimoto Y, Takada F, Hata K.
Hori A, et al.
Hum Genome Var. 2021 Oct 29;8(1):40. doi: 10.1038/s41439-021-00166-6.
Hum Genome Var. 2021.
PMID: 34716296
Free PMC article.
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