ALBERTO
FERNANDEZ JAEN
PROFESOR
Mayo Clinic
Rochester, Estados UnidosPublicaciones en colaboración con investigadores/as de Mayo Clinic (3)
2022
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HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations
Genome research, Vol. 32, Núm. 7, pp. 1242-1253
2020
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
Biological Psychiatry, Vol. 87, Núm. 2, pp. 100-112
2016
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Clinical delineation of the PACS1-related syndrome-Report on 19 patients
American Journal of Medical Genetics, Part A, Vol. 170, Núm. 3, pp. 670-675