Pages that link to "Q48710057"
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The following pages link to 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy (Q48710057):
Displaying 29 items.
- Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes (Q27309937) (← links)
- Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies (Q28647874) (← links)
- 16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions. (Q30362781) (← links)
- Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach. (Q31125778) (← links)
- Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations. (Q35619212) (← links)
- Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy (Q35998816) (← links)
- A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology (Q36060885) (← links)
- Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. (Q36473390) (← links)
- A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy (Q37062120) (← links)
- Reversal of dendritic phenotypes in 16p11.2 microduplication mouse model neurons by pharmacological targeting of a network hub. (Q37142800) (← links)
- New genes for focal epilepsies with speech and language disorders (Q38447528) (← links)
- The evolving spectrum of PRRT2-associated paroxysmal diseases (Q38644996) (← links)
- Association of Uba6-Specific-E2 (USE1) With Lung Tumorigenesis (Q38708954) (← links)
- Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes (Q41001236) (← links)
- Genetic and epigenetic mechanisms of epilepsy: a review (Q41057615) (← links)
- Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies (Q41543882) (← links)
- The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs (Q41918222) (← links)
- Copy Number Matters in Epilepsy (Q42432410) (← links)
- Epilepsy is not resolved (Q43143947) (← links)
- Copy number variation and brain structure: lessons learned from chromosome 16p11.2. (Q43148307) (← links)
- Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability. (Q47635812) (← links)
- The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes (Q47948174) (← links)
- Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes (Q48304242) (← links)
- Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. (Q50548852) (← links)
- Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population. (Q52307028) (← links)
- Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia (Q57039673) (← links)
- Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses (Q63244228) (← links)
- Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (Q92881212) (← links)
- Clinical and electroencephalographic features of benign childhood epilepsy with centrotemporal spikes comorbidity with attention-deficit hyperactivity disorder in Southwest China (Q96829574) (← links)