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Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subunit Cav1.3-encoding CACNA1D gene.
Stem Cell Res. 2022 May;61:102784. doi: 10.1016/j.scr.2022.102784. Epub 2022 Apr 9.
Stem Cell Res. 2022.
PMID: 35453044
Free article.
A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism.
D Hidalgo-Santos A, Del Carmen DeMingo-Alemany M, Moreno-Macián F, Roselló M, Orellana C, Martínez F, Caro-Llopis A, León-Cariñena S, Tomás-Vila M.
D Hidalgo-Santos A, et al.
Int J Endocrinol Metab. 2018 Jul 1;16(3):e67329. doi: 10.5812/ijem.67329. eCollection 2018 Jul.
Int J Endocrinol Metab. 2018.
PMID: 30323850
Free PMC article.
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