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Search Results to Stephen Scherer

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 Scherer, Stephen

Item TypeName
Concept Intellectual Disability
Concept Fragile X Mental Retardation Protein
Concept Mental Retardation, X-Linked
Academic Article Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism.
Academic Article Sequence variants within exon 1 of MECP2 occur in females with mental retardation.
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 Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
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 Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
Academic Article Rare copy number variations in an adult with transposition of the great arteries emphasize the importance of updated genetic assessments in syndromic congenital cardiac disease.
Academic Article Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Academic Article A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.
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 Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.
Academic Article Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
Academic Article Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient.
Academic Article Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
Academic Article OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
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 PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.
Academic Article Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy.
Academic Article Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Academic Article New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.
Academic Article Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
Academic Article Refining critical regions in 15q24 microdeletion syndrome pertaining to autism.
Academic Article DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Academic Article A framework for an evidence-based gene list relevant to autism spectrum disorder.
Academic Article Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.

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  • Intellectual Disability