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CHAMP1
Gfh 2016 Tagungsband Final.Pdf
CPTC-CDK1-1 (CAB079974) Immunohistochemistry
The Function and Evolution of C2H2 Zinc Finger Proteins and Transposons
Bioinformatics Tools for the Analysis of Gene-Phenotype Relationships Coupled with a Next Generation Chip-Sequencing Data Processing Pipeline
Human Social Genomics in the Multi-Ethnic Study of Atherosclerosis
Phenotypic and Genotypic Characterization of Families With
Neurodevelopmental Phenotypes in Individuals with Pathogenic Variants in CHAMP1
An Improved Pig Reference Genome Sequence to Enable Pig Genetics and Genomics Research
Picturing the Whole Genome
Content Based Search in Gene Expression Databases and a Meta-Analysis of Host Responses to Infection
Gnomad Lof Supplement
Mutations in EBF3 Disturb Transcriptional Profiles and Underlie a Novel Syndrome of Intellectual Disability, Ataxia and Facial D
Description: Uniprot:P06493
Autismnext Positive Sample Report
Prevalence, Phenotype and Architecture of Developmental Disorders Caused by De Novo Mutation
Towards a Gene-Level Map of Resilience to Genetic Variants Associated with Autism Thomas Rolland1*, Freddy Cliquet1, Richard
A Fine-Tuned Β-Catenin Regulation During Proliferation of Corneal
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability Bertrand Isidor, Sébastien Küry, Jill A
Top View
Chromosomal Microarray Analysis in the Genetic Evaluation of 279
Rapid Phenotype-Driven Gene Prioritization for Rare Diseases
First Chinese Patient with Mental Retardation‑40 Due to a De Novo CHAMP1 Frameshift Mutation: Case Report and Literature Review
Identification of Copy Number Variation-Driven Genes for Liver Cancer Via Bioinformatics Analysis
Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders from the South of Brazil
Intellectual Disability and Microcephaly Associated with A
Neurodevelopmental Phenotypes in Individuals with Pathogenic Variants in CHAMP1
Autosomal Recessive Variants in Intellectual Disability and Autism Spectrum Disorder
Transcript Expression-Aware Annotation Improves Rare Variant Interpretation
LETTER Doi:10.1038/Nature13394
In Retention of the G9a Methyltransferase on Chromatin*
WO 2014/100434 Al 26 June 2014 (26.06.2014) W P O P C T
De Novo Pathogenic Variants in CHAMP1 Are Associated with Global Developmental Delay, Intellectual
Postnatal Diagnosis of Constitutive Ring Chromosome 13 Using Both Conventional and Molecular Cytogenetic Approaches
Analyses of PDE-Regulated Phosphoproteomes Reveal Unique and Specific Camp-Signaling Modules in T Cells
PRODUCT SPECIFICATION Product Datasheet
Lessons Learned from the Search for Genes Responsible for Rare Mendelian Disorders Nara L
De Novo Nonsense and Frameshift Variants of TCF20 in Individuals with Intellectual Disability and Postnatal Overgrowth