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Page 1
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.
Int J Mol Sci. 2022 Aug 22;23(16):9480. doi: 10.3390/ijms23169480.
Int J Mol Sci. 2022.
PMID: 36012761
Free PMC article.
New cis-Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency.
Matamala N, Gomez-Mariano G, Perez JA, Baladrón B, Torres-Durán M, Michel FJ, Saez R, Hernández-Pérez JM, Belmonte I, Rodriguez-Frias F, Blanco I, Strnad P, Janciauskiene S, Martinez-Delgado B.
Matamala N, et al. Among authors: baladron b.
Am J Respir Cell Mol Biol. 2020 Oct;63(4):444-451. doi: 10.1165/rcmb.2020-0021OC.
Am J Respir Cell Mol Biol. 2020.
PMID: 32515985
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De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, Monzon S, Cuesta I, Juliá M, Aquino V, Rodriguez-Martin C, Damian A, Gonzalo I, Gomez-Mariano G, Baladron B, Cazorla R, Iglesias G, Roman E, Ros P, Tutor P, Mellor S, Jimenez C, Cabrejas MJ, Gonzalez-Vioque E, Alonso J, Bermejo-Sánchez E, Posada M.
Martinez-Delgado B, et al. Among authors: baladron b.
Am J Med Genet A. 2021 Mar;185(3):877-883. doi: 10.1002/ajmg.a.62017. Epub 2020 Dec 21.
Am J Med Genet A. 2021.
PMID: 33346930
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