Loading...
Reach Banner
Keywords
Last name
Institution

Connection

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 Intellectual Disability
Concept Mental Retardation, X-Linked
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 Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder.
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 Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
Academic Article Severe intellectual disability and autistic features associated with microduplication 2q23.1.
Academic Article Detection and characterization of copy number variation in autism spectrum disorder.
Academic Article SHANK1 Deletions in Males with Autism Spectrum Disorder.
Academic Article Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Academic Article Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Academic Article CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
Academic Article Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Academic Article Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.
Academic Article Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
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 Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Academic Article Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.
Academic Article Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
Academic Article Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
Academic Article Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
Academic Article Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.
Academic Article De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
Academic Article A framework for an evidence-based gene list relevant to autism spectrum disorder.
Academic Article Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia.

Search criteria
  • Intellectual Disability