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Search Results to Stephen Scherer

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One or more keywords matched the following items that are connected to Scherer, Stephen

Item TypeName
Concept Genotype
Academic Article Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.
Academic Article Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism.
Academic Article Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome.
Academic Article Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes: the DCCT/EDIC Genetics Study.
Academic Article Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.
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 Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong.
Academic Article The diploid genome sequence of an individual human.
Academic Article Contemplating effects of genomic structural variation.
Academic Article Origins and functional impact of copy number variation in the human genome.
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 Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
Academic Article A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
Academic Article Genome-wide association analysis of copy number variation in recurrent depressive disorder.
Academic Article Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.
Academic Article Individual common variants exert weak effects on the risk for autism spectrum disorders.
Academic Article No impact of KIR-ligand mismatch on allograft outcome in HLA-compatible kidney transplantation.
Academic Article Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.
Academic Article The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia.
Academic Article Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
Academic Article Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia.
Academic Article Discrimination of SNPs in GC-rich regions using a modified hydrolysis probe chemistry protocol.
Academic Article A high-resolution copy-number variation resource for clinical and population genetics.
Academic Article A copy number variation map of the human genome.
Academic Article Clinically relevant copy number variations detected in cerebral palsy.
Academic Article HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.
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 Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.
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 Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders.
Academic Article Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
Academic Article Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis.
Academic Article Characterization of Large Copy Number Variation in Mexican Type 2 Diabetes subjects.
Academic Article Genotypic characterization of sequential Candida albicans isolates from fluconazole-treated neutropenic patients.
Academic Article Heterogeneous endolysins in Listeria monocytogenes bacteriophages: a new class of enzymes and evidence for conserved holin genes within the siphoviral lysis cassettes.
Academic Article Angiotensin-converting enzyme genotype and renal allograft survival.
Academic Article Paraoxonase-2 gene (PON2) G148 variant associated with elevated fasting plasma glucose in noninsulin-dependent diabetes mellitus.
Academic Article Genetic variation in paraoxonase-1 and paraoxonase-2 is associated with variation in plasma lipoproteins in Alberta Hutterites.
Academic Article A common variant in PPP1R3 associated with insulin resistance and type 2 diabetes.
Academic Article Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
Academic Article Variation in the AU(AT)-rich element within the 3'-untranslated region of PPP1R3 is associated with variation in plasma glucose in aboriginal Canadians.
Academic Article Genetic variation in paraoxonase-2 is associated with variation in plasma lipoproteins in Canadian Oji-Cree.
Academic Article Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy.
Academic Article Clinical impact of HLA DR B1 genotypes in chronic hepatitis C virus infection.
Academic Article A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
Academic Article Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.
Academic Article Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.
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 Reassessing the impact of donor HLA-C genotype on long-term liver transplant survival.
Academic Article Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
Academic Article Impact of DNA source on genetic variant detection from human whole-genome sequencing data.
Academic Article VikNGS: a C++ variant integration kit for next generation sequencing association analysis.
Academic Article Genome-wide association study of emotional empathy in children.
Academic Article Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.
Academic Article Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

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