Dataset related to article "CDKL5 deficiency disorder in males: Five new variants and review of the literature"
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2022-02-21
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Additional file 1: of Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
Table S1. Loss of function and de novo missense variants in SHANK3 reported previously. Table S2. Clinical features of individuals with pathogenic or likely pathogenic SHANK3 variants reported in the
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Cortical neural development in health and disease
Understanding how the mammalian brain develops is the sine qua non condition for deciphering neurodevelopmental disorders (ND), a condition characterized by an abnormal brain...
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Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse.. Mus musculus
Synapse development and neuronal activity represent fundamental processes for the establishment of cognitive function. Structural organization as well as signalling pathways from receptor stimulation
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Supplementary Material for: Clinical and Biochemical Monitoring of MCT8 Deficiency (Allan–Herndon–Dudley Syndrome) Across the Lifespan: Practical Considerations for Multidisciplinary Care
Pathogenic mutations in the SLC16A2 gene can result in partial or complete loss of function of the critical and highly specific monocarboxylate transporter 8 (MCT8), a thyroid hormone transporter. MCT
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Additional file 4 of Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
Additional file 4: PANTHER Overrepresentation Test for the gene set with causative variants.
DataCite Commons2024-08-18 更新60
