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Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.
Not available
S-EPMC2649021
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biostudies-literature
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Mapping the Effect of Interictal Epileptic Activity Density During Wakefulness on Brain Functioning in Focal Childhood Epilepsies With Centrotemporal Spikes.
Not available
S-EPMC6930928
|
biostudies-literature
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Ictal Electroencephalographic Characteristics of Nodding Syndrome: A Comparative Case-Series from South Sudan, Tanzania, and Uganda.
Not available
S-EPMC9544008
|
biostudies-literature
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Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity.
Not available
S-EPMC1226140
|
biostudies-literature
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Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses.
Not available
S-EPMC12766547
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biostudies-literature
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Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.
Not available
S-EPMC2771536
|
biostudies-literature
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A registry for Dravet syndrome: The Italian experience.
Not available
S-EPMC10235582
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biostudies-literature
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Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
Not available
S-EPMC3136441
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biostudies-literature
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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
Not available
S-EPMC7250485
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biostudies-literature
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