Pages that link to "Q34705170"

The following pages link to Further confirmation of the MED13L haploinsufficiency syndrome (Q34705170):

Displaying 19 items.

• Mediator kinase module and human tumorigenesis (Q26800203) (← links)
• Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes (Q33761003) (← links)
• Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing (Q34431288) (← links)
• Redefining the MED13L syndrome (Q36116727) (← links)
• Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. (Q36184548) (← links)
• Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases (Q42175057) (← links)
• Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. (Q48214924) (← links)
• A complex molecular switch directs stress-induced cyclin C nuclear release through SCFGrr1-mediated degradation of Med13. (Q50045908) (← links)
• Clinical phenotype and genetic analysis of MED13L syndrome (Q50091027) (← links)
• MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype (Q50420591) (← links)
• De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? (Q51585991) (← links)
• MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. (Q52429453) (← links)
• MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. (Q52692296) (← links)
• De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. (Q54979492) (← links)
• Molecular and Functions of the CDK8 and CDK19 Kinase Modules (Q61448703) (← links)
• Analysis of Polymorphisms in the Mediator Complex Subunit 13-like (Med13L) Gene in the Context of Immune Function and Development of Experimental Arthritis (Q89302987) (← links)
• Mutations in Mediator Complex Genes CDK8, MED12, MED13, and MEDL13 Mediate Overlapping Developmental Syndromes (Q89539083) (← links)
• Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability (Q97531025) (← links)
• Trait-associated noncoding variant regions affect TBX3 regulation and cardiac conduction (Q97544686) (← links)