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Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder.
medRxiv [Preprint]. 2024 Nov 2:2024.10.31.24314716. doi: 10.1101/2024.10.31.24314716.
medRxiv. 2024.
PMID: 39574879
Free PMC article.
Preprint.
A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing.
Galaz-Montoya CI, Alcaraz-Estrada S, García-Montaño LA, Zenteno JC, Piña-Aguilar RE.
Galaz-Montoya CI, et al.
Bol Med Hosp Infant Mex. 2019;76(1):49-53. doi: 10.24875/BMHIM.18000099.
Bol Med Hosp Infant Mex. 2019.
PMID: 30657467
English.
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[Clinical profile of a cohort of Silver-Russell syndrome patients followed at the Hospital Infantil de México Federico Gómez from 1998 to 2012].
Galaz-Montoya CI, García-Delgado C, Cervantes-Peredo A, García-Morales L, Morán-Barroso VF.
Galaz-Montoya CI, et al.
Bol Med Hosp Infant Mex. 2014 Jul-Aug;71(4):218-226. doi: 10.1016/j.bmhimx.2014.08.001. Epub 2015 May 19.
Bol Med Hosp Infant Mex. 2014.
PMID: 29421254
Free article.
Spanish.
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