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Search Results to Christian Marshall

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One or more keywords matched the following items that are connected to Marshall, Christian

Item TypeName
Concept Genotype
Academic Article Global variation in copy number in the human genome.
Academic Article Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
Academic Article A genome-wide scan for common alleles affecting risk for autism.
Academic Article A genotype resource for postmortem brain samples from the Autism Tissue Program.
Academic Article A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
Academic Article Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.
Academic Article The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia.
Academic Article Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia.
Academic Article OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.
Academic Article A high-resolution copy-number variation resource for clinical and population genetics.
Academic Article Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
Academic Article Clinically relevant copy number variations detected in cerebral palsy.
Academic Article Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.
Academic Article MED23-associated refractory epilepsy successfully treated with the ketogenic diet.
Academic Article Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Academic Article ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
Academic Article De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.
Academic Article Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
Academic Article A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Academic Article Sequencing of isolated sperm cells for direct haplotyping of a human genome.
Academic Article Adult neuropsychiatric expression and familial segregation of 2q13 duplications.
Academic Article Impact of DNA source on genetic variant detection from human whole-genome sequencing data.

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