scholarly article | Q13442814 |
P50 | author | Takuya Hiraide | Q92743190 |
P2093 | author name string | Hirotomo Saitsu | |
Mitsuko Nakashima | |||
Shinji Saitoh | |||
Ayako Hattori | |||
Daisuke Ieda | |||
Ikumi Hori | |||
P2860 | cites work | Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability | Q48133294 |
Dynamic association of epigenetic H3K4me3 and DNA 5hmC marks in the dorsal hippocampus and anterior cingulate cortex following reactivation of a fear memory. | Q48295215 | ||
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability. | Q48799738 | ||
De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism. | Q50098318 | ||
Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene. | Q50803451 | ||
Histone H3 lysine K4 methylation and its role in learning and memory | Q60919338 | ||
Epilepsy with myoclonic absences | Q81453655 | ||
Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex | Q24299989 | ||
Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS | Q24320097 | ||
Histone methylation regulates memory formation. | Q24632499 | ||
Accurate and exact CNV identification from targeted high-throughput sequence data | Q33870567 | ||
Histone trimethylation by Set1 is coordinated by the RRM, autoinhibitory, and catalytic domains | Q33937210 | ||
Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth | Q36358463 | ||
Increased co-expression of genes harboring the damaging de novo mutations in Chinese schizophrenic patients during prenatal development | Q36371011 | ||
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation | Q38597273 | ||
Ictal single photon emission computed tomography of myoclonic absence seizures | Q38617135 | ||
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. | Q38779251 | ||
Prevalence and architecture of de novo mutations in developmental disorders | Q38991782 | ||
Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase | Q46717409 | ||
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. | Q47252096 | ||
Myoclonic Absence Seizures in Dravet Syndrome | Q47792312 | ||
P433 | issue | 3 | |
P921 | main subject | intellectual disability | Q183560 |
autism spectrum disorder | Q1436063 | ||
disability affecting intellectual abilities | Q3317827 | ||
epilepsy with myoclonic absences | Q55788679 | ||
P304 | page(s) | 476-481 | |
P577 | publication date | 2019-05-24 | |
P1433 | published in | Epilepsia Open | Q50817756 |
P1476 | title | De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences | |
P478 | volume | 4 |
Q92743194 | A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder | cites work | P2860 |
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