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Haploinsufficiency
Definitions
Increased Burden of Deleterious Variants in Essential Genes in Autism Spectrum Disorder
Loss of One Allele of ARF Rescues Mdm2 Haploinsufficiency Effects On
Haploinsufficiency of Autism Spectrum Disorder Candidate Gene NUAK1 Impairs Cortical Development and Behavior in Mice
Table of Contents Neurology.Org/Ng Online ISSN: 2376-7839 Volume 3, Number 3, June 2017
The Genetics and Clinical Manifestations of Telomere Biology Disorders Sharon A
An Update on the Biology and Management of Dyskeratosis Congenita and Related Telomere Biology Disorders
Chromosome 22Q11.2 Deletion Syndrome (Digeorge and Velocardiofacial Syndromes) Elena Perez, MD, Phd, and Kathleen E
Haploinsufficiency-Based Large-Scale Forward Genetic Analysis Of
Autoimmune Lymphoproliferative Syndrome Due to FAS Mutations Outside the Signal-Transducing Death Domain: Molecular Mechanisms and Clinical Penetrance
Exome Sequencing of 457 Autism Families Recruited Online Provides Evidence for Autism Risk Genes
Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant Dyskeratosis Congenita
The Mechanisms of CHD8 in Neurodevelopment and Autism Spectrum Disorders
Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome
Defining the Role of Folliculin and Its Interacting Partners
Haploinsufficiency of the Folliculin Gene Leads to Impaired Functions
Dyskeratosis Congenita
Genetic Instability Upon the Loss of the Tumour Suppressor Folliculin (FLCN)
Top View
Digeorge Syndrome: Bed to Bench to Bed
Splice-Site Mutation Causing Partial Retention of Intron in the FLCN Gene in Birt-Hogg-Dubé Syndrome
Functional Analysis of ACD Mutations in Dyskeratosis Congenita By
GATA2 Deficiency NIAID
Genome Editing As a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa
Genotype/Phenotype Relationships in HNF-4 /MODY1 Haploinsufficiency
Plos Genetics: a Large-Scale Complex Haploinsufficiency-Based Geneti
Relationship Between Genotype and Skeletal Phenotype in Children and Adolescents with Osteogenesis Imperfecta
The Persistence of Haploinsufficiency and Its Role in Genome Evolution By
Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11
A Genotype-First Approach Identifies an Intellectual Disability-Overweight
Mutation-Specific Pathophysiological Mechanisms Define Different Neurodevelopmental Disorders Associated with SATB1 Dysfunction
Measuring “Intolerance to Mutation” in Human Genetics
Developmental and Genetic Diseases Anthony A
Haploinsufficiency of the Melanocortin-4 Receptor: Part of a Thrifty Genotype?
Haploinsufficiency Interactions Between RALBP1 and P53 In
Koga Et Al. (2009)
Combined Haploinsufficiency for ATM and RAD9 As a Factor in Cell Transformation, Apoptosis, and DNA Lesion Repair Dynamics
Review Article the Molecular Basis of Genetic Dominance
Haploinsufficiency Networks Identify Targetable Patterns of Allelic
Tbx1 in Pharyngeal Ectoderm in Mice
Autozygosity Reveals Recessive Mutations and Novel Mechanisms in Dominant Genes: Implications in Variant Interpretation
Consequences of 22Q11.2 Microdeletion on the Genome, Individual and Population Levels
Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome
Haploinsufficiency of DNA Damage Response Genes and Their Potential
Characterising and Predicting Haploinsufficiency in the Human Genome
Clinical Phenotype of ASD-Associated DYRK1A Haploinsufficiency Rachel K