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UnknownSudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.
Not available
S-EPMC7204034 | biostudies-literature
UnknownHaploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.
Not available
S-EPMC5567153 | biostudies-literature
UnknownHaploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
Not available
S-EPMC3675438 | biostudies-literature
UnknownClinical and molecular consequences of disease-associated de novo mutations in SATB2.
Not available
S-EPMC5548934 | biostudies-literature
UnknownUpdate on Kleefstra Syndrome.
Not available
S-EPMC3366700 | biostudies-literature
UnknownDisruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Not available
S-EPMC9472083 | biostudies-literature
UnknownClinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Not available
S-EPMC6139063 | biostudies-literature
UnknownNMDA receptor gene variations as modifiers in Huntington disease: a replication study.
Not available
S-EPMC3186947 | biostudies-literature
UnknownCAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
Not available
S-EPMC3306163 | biostudies-literature
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