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Search Results to Christian Marshall

This is a "connection" page, showing the details of why an item matched the keywords from your search.

                     
                     

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

Item TypeName
Concept Chromosomes, Human, Pair 15
Concept X Chromosome Inactivation
Concept Chromosomes, Human, X
Concept Chromosomes, Human, Y
Concept Chromosomes, Human, Pair 12
Concept Chromosomes, Human, Pair 16
Concept Chromosomes, Human, Pair 17
Concept Chromosome Banding
Concept Chromosomes, Human
Concept Chromosome Breakage
Concept Chromosomes, Human, Pair 14
Concept Physical Chromosome Mapping
Concept Chromosomes, Human, Pair 11
Concept Chromosomes, Human, Pair 1
Concept Chromosomes, Human, Pair 19
Concept Chromosomes, Human, Pair 3
Concept Chromosomes, Human, Pair 20
Concept Chromosomes
Concept Chromosome Duplication
Concept Chromosome Segregation
Concept Chromosome Mapping
Concept Chromosome Aberrations
Concept Chromosome Deletion
Concept Chromosomes, Human, Pair 10
Concept Chromosome Inversion
Concept Chromosomes, Human, Pair 7
Concept Chromosomes, Human, Pair 6
Concept Chromosome Breakpoints
Concept Chromosomes, Human, Pair 2
Concept Chromosomes, Human, Pair 13
Concept Chromosomes, Human, Pair 9
Concept Chromosomes, Artificial, Bacterial
Concept Chromosome Disorders
Concept Chromosomes, Human, Pair 22
Academic Article Structural variants: changing the landscape of chromosomes and design of disease studies.
Academic Article Global variation in copy number in the human genome.
Academic Article Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Academic Article Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
Academic Article Contribution of SHANK3 mutations to autism spectrum disorder.
Academic Article Structural variation of chromosomes in autism spectrum disorder.
Academic Article A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.
Academic Article The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.
Academic Article Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Academic Article Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.
Academic Article Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.
Academic Article Association and mutation analyses of 16p11.2 autism candidate genes.
Academic Article Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.
Academic Article Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.
Academic Article Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
Academic Article Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan.
Academic Article Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
Academic Article 13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review.
Academic Article Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.
Academic Article 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.
Academic Article Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions.
Academic Article Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene.
Academic Article Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Academic Article Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Academic Article Severe intellectual disability and autistic features associated with microduplication 2q23.1.
Academic Article Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Academic Article 1q21.1 Microduplication expression in adults.
Academic Article Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Academic Article Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Academic Article Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.
Academic Article A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.
Academic Article Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.
Academic Article Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Academic Article Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis.
Academic Article Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia.
Academic Article Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Academic Article A high-resolution copy-number variation resource for clinical and population genetics.
Academic Article 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.
Academic Article Clinically relevant copy number variations detected in cerebral palsy.
Academic Article Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Academic Article Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Academic Article Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease.
Academic Article Copy number variation in fetal alcohol spectrum disorder.
Academic Article Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Academic Article Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
Academic Article De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.
Academic Article Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.
Academic Article Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Academic Article Sequencing of isolated sperm cells for direct haplotyping of a human genome.
Academic Article Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.
Academic Article A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.
Academic Article Adult neuropsychiatric expression and familial segregation of 2q13 duplications.
Academic Article Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.
Academic Article Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.
Academic Article The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.
Academic Article A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.

Search criteria
  • Chromosomes