[Two new cases of X-linked intellectual developmental disorder-105 linked to a previously unreported pathogenic variant in the USP27X gene]. [PDF]
María Dolores-Sánchez C +3 more
europepmc +1 more source
Adult-onset cerebral X-linked adrenoleukodystrophy presenting with frontal lobe syndrome caused by a de novo <i>ABCD1</i> gene mutation (c.1415_1416delAG, p.Gln472fs*83). [PDF]
Ghosh R +4 more
europepmc +1 more source
[Autoimmune Regulatory Gene (AIRE) and Development of Autoimmune Thyroiditis in Down Syndrome]. [PDF]
Moran-Espinosa MC +5 more
europepmc +1 more source
Long non-coding RNA i regulació epigenètica, el paper de xist en el procés d'inactivació del cromosoma X [PDF]
Ballesteros Cuerda, Estefania +1 more
core
Importance of determining variations in the number of copies in newborns with autosomal aneuploidies [PDF]
Abarca H +4 more
europepmc +1 more source
[Infectious and inflammatory diseases of the central nervous system 2014-2024]. [PDF]
Rangel-Tovar AK, Velásquez-Pérez L.
europepmc +1 more source
Consideraciones sobre la estructura y cinética del cromosoma mitótico [PDF]
Goyanes Villaescusa, Vicente
core
Implementación del ADN libre circulante para la detección de aneuploidías fetales. [PDF]
Madrigal Bajo I +2 more
europepmc +1 more source
Clinical and genetic description of patients with chronic granulomatous disease in a pediatric hospital [PDF]
Berriozábal-Villarruel X +7 more
europepmc +1 more source

