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2023 | 2 |
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Identification of novel Mendelian disorders of the epigenetic machinery (MDEMs)-associated functional mutations and neurodevelopmental disorders.
QJM. 2023 May 27;116(5):355-364. doi: 10.1093/qjmed/hcad005.
QJM. 2023.
PMID: 36625521
Identification of a familial complex chromosomal rearrangement by optical genome mapping.
Yang Y, Hao W.
Yang Y, et al.
Mol Cytogenet. 2022 Sep 21;15(1):41. doi: 10.1186/s13039-022-00619-9.
Mol Cytogenet. 2022.
PMID: 36127686
Free PMC article.
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Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.
Xing Q, Zhou Q, Li H, Wang Z, Li S, Wu J, Zhu H, Liang D, Li Z, Wu L.
Xing Q, et al.
Oral Dis. 2023 Dec 21. doi: 10.1111/odi.14838. Online ahead of print.
Oral Dis. 2023.
PMID: 38129747
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Saracatinib prompts hemin-induced K562 erythroid differentiation but suppresses erythropoiesis of hematopoietic stem cells.
Ding L, Chen D, Li Y, Xie Y, Sun X, Wang D.
Ding L, et al.
Hum Cell. 2024 May;37(3):648-665. doi: 10.1007/s13577-024-01034-5. Epub 2024 Feb 22.
Hum Cell. 2024.
PMID: 38388899
Free PMC article.
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Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study.
Zhu R, Zhu M, Wang B, Chen E, Cai D, Yang Y, Liang Y, Su C, Wang D, Sun X, Huang L, Xie Y.
Zhu R, et al.
BMC Med Genomics. 2024 Jan 24;17(1):34. doi: 10.1186/s12920-024-01809-7.
BMC Med Genomics. 2024.
PMID: 38267993
Free PMC article.
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