Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
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Somatic mosaicism: implications for disease and transmission geneticsSomatic mutation, genomic variation, and neurological diseaseAustralian Twin Registry: 30 years of progress.Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data.Somatic point mutations occurring early in development: a monozygotic twin study.The hidden genetics of epilepsy-a clinically important new paradigm.Can ALS-associated C9orf72 repeat expansions be diagnosed on a blood DNA test alone?Genomic medicine and neurological disease.Longitudinal weight differences, gene expression and blood biomarkers in BMI-discordant identical twins.De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention ProblemsNext-generation genetic testing for retinitis pigmentosa.Discontinuity in the genetic and environmental causes of the intellectual disability spectrumGenetic variations and associated pathophysiology in the management of epilepsy.Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome.Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene.Molecular genetics of Dravet syndrome.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Primer Part 1-The building blocks of epilepsy genetics.Dysarthria and broader motor speech deficits in Dravet syndrome.Twin pregnancy complicated by esophageal atresia, duodenal atresia, gastric perforation, and hypoplastic left heart structures in one twin: a case report and review of the literaturePitfalls in genetic testing: the story of missed SCN1A mutations.Characterization of olfactory stem cells.Molecular genetic investigative leads to differentiate monozygotic twins.De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.Post-zygotic genomic changes in glutamate and dopamine pathway genes may explain discordance of monozygotic twins for schizophrenia.Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease.Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.Large Autosomal Copy-Number Differences within Unselected Monozygotic Twin Pairs are Rare.Transition to adult life in the monogenic epilepsies.Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair.CNV Concordance in 1,097 MZ Twin Pairs.Embryonic left-right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians.Identification of somatic mutations in monozygotic twins discordant for psychiatric disorders.Lupus: How much “complexity” is really (just) genetic heterogeneity?
P2860
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P2860
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
description
2010 nî lūn-bûn
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2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
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2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
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2010年學術文章
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2010年學術文章
@zh-hant
name
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
@en
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
@nl
type
label
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
@en
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
@nl
prefLabel
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
@en
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
@nl
P2093
P50
P356
P1476
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
@en
P2093
Kate M Lawrence
Lata Vadlamudi
Leanne M Dibbens
Wayne Murrell
Xenia Iona
P304
P356
10.1056/NEJMOA0910752
P407
P577
2010-09-01T00:00:00Z