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Year | Number of Results |
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2023 | 2 |
2024 | 2 |
2025 | 0 |
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Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs.
Hum Cell. 2024 May;37(3):817-831. doi: 10.1007/s13577-024-01028-3. Epub 2024 Feb 20.
Hum Cell. 2024.
PMID: 38379122
A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application.
Chen A, Ling J, Peng X, Liu X, Mao S, Chen Y, Qin M, Zhang S, Bai Y, Song J, Feng Z, Ma L, He D, Mei L, He C, Feng Y.
Chen A, et al.
Clin Exp Otorhinolaryngol. 2023 Nov;16(4):342-358. doi: 10.21053/ceo.2023.00668. Epub 2023 Oct 11.
Clin Exp Otorhinolaryngol. 2023.
PMID: 37817567
Free PMC article.
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Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS-derived melanocytes.
Wen J, Song J, Chen J, Feng Z, Jing Q, Gong W, Kang X, Mei L, He C, Ma L, Feng Y.
Wen J, et al.
Pigment Cell Melanoma Res. 2024 Jan;37(1):21-35. doi: 10.1111/pcmr.13118. Epub 2023 Aug 9.
Pigment Cell Melanoma Res. 2024.
PMID: 37559350
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