DOCSLIB.ORG
Explore
Sign Up
Log In
Upload
Search
Home
» Tags
» GeneMatcher
GeneMatcher
Identification Des Bases Moléculaires Et Physiopathologiques Des Syndromes Oro-Facio-Digitaux Ange-Line Bruel
2014-Platform-Abstracts.Pdf
Genomic Approach in Idiopathic Intellectual Disability Maria De Fátima E Costa Torres
Abstracts Selected for Platform Presentation
Diagnóstico Molecular Do Transtorno Do Espectro Autista Através Do Sequenciamento Completo De Exoma Molecular Diagnosis Of
The 4Th Joint Spring Conference 7-9 March 2016 the City Hall, Cardiff Civic Centre
Platform Abstracts
Phenodb, Genematcher and Variantmatcher, Tools for Analysis and Sharing of Sequence Data Elizabeth Wohler1†, Renan Martin1†, Sean Grifth2, Eliete Da S
Abstracts Selected for Poster Presentations
University of Groningen Paediatric Cardiomyopathies Herkert, Johanna
Abstracts from the 53Rd European Society of Human Genetics (ESHG) Conference: Oral Presentations
Human Genome Meeting 2016 Houston, TX, USA
Title: Centers for Mendelian Genomics: a Decade of Facilitating Gene Discovery
Clinical Application of Whole-Exome Sequencing Across Clinical Indications
Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency
Genematcher: a Matching Tool for Connecting Investigators with an Interest in the Same Gene
Autosomal Recessive Variants in Intellectual Disability and Autism Spectrum Disorder
Identifying Novel Disease Genes in Genetically Undiagnosed Individuals with Rett Syndrome and Related Neurodevelopmental Disorders
Top View
Disruption of RFX Family Transcription Factors Causes Autism, Attention Deficit/Hyperactivity Disorder, Intellectual Disability, and Dysregulated Behavior
Rare Deleterious Mutations of HNRNP Genes Result in Shared Neurodevelopmental Disorders Madelyn A
This Electronic Thesis Or Dissertation Has Been Downloaded from the King’S Research Portal At
Lessons Learned from the Search for Genes Responsible for Rare Mendelian Disorders Nara L
Explaining Rare Mendelian Phenotypes: Exome Sequencing And
Discovering the Genetic Cause of Mendelian Disorders in the Age Of