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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
(The American Journal of Human Genetics, 2017-02-02)
Trichosporon asahii es un hongo patógeno emergente reportado en la literatura médica principalmente en pacientes inmunocomprometidos. No obstante, el presente caso es inusual debido a que se trata de un paciente adulto ...
Neurodevelopmental basis of bipolar disorder: A critical appraisal
(Elsevier B.V., 2008-10-01)
Neurodevelopmental factors have been implicated in the pathophysiology of mental disorders. However, the evidence regarding their role in bipolar disorder is controversial. We reviewed the pertinent literature searching ...
A connective tissue disorder may underlie ESSENCE problems in childhood
(Elsevier Inc., 2017)
© 2016 Elsevier Ltd Background Ehlers-Danlos syndrome hypermobility type, also known as Joint Hypermobility Syndrome (EDS-HT/JHS), is the most common hereditary disorder of the connective tissue (HDCT). It is characterized ...
Delineation of functionally essential protein regions for 242 neurodevelopmental genes
(2022)
Neurodevelopmental disorders (NDDs), including severe paediatric epilepsy, autism and intellectual disabilities are heterogeneous conditions in which clinical genetic testing can often identify a pathogenic variant. For ...
Non-declared consanguinity in Peruvian patients with neurodevelopmental disorder detected trough microarrayConsanguinidad no declarada en pacientes peruanos con trastorno del neurodesarrollo detectada a través de micromatrices
(Universidad Nacional Mayor de San Marcos, Facultad de Medicina Humana, 2023)