Pages that link to "Q28392317"

The following pages link to Mosaic structural variation in children with developmental disorders (Q28392317):

Displaying 21 items.

• Mechanisms underlying structural variant formation in genomic disorders (Q26765934) (← links)
• MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples (Q33740850) (← links)
• Early somatic mosaicism is a rare cause of long-QT syndrome (Q37346748) (← links)
• Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force. (Q37747670) (← links)
• Exome sequencing and whole genome sequencing for the detection of copy number variation (Q38531649) (← links)
• Detection of structural mosaicism from targeted and whole-genome sequencing data (Q38601700) (← links)
• One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. (Q40446420) (← links)
• Reduction of heterozygosity (ROH) as a method to detect mosaic structural variation (Q42340138) (← links)
• Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH. (Q45944246) (← links)
• Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications. (Q47125495) (← links)
• Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders (Q47547338) (← links)
• The Nedd4 binding protein 3 is required for anterior neural development in Xenopus laevis (Q48349204) (← links)
• Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations. (Q52632729) (← links)
• Somatic mosaicism and neurodevelopmental disease (Q57804835) (← links)
• Mosaic Brain Aneuploidy in Mental Illnesses: An Association of Low-level Post-zygotic Aneuploidy with Schizophrenia and Comorbid Psychiatric Disorders (Q88240309) (← links)
• Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia (Q89777857) (← links)
• Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data (Q91665327) (← links)
• Somatic Mutation in Pediatric Neurological Diseases (Q91697929) (← links)
• Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings (Q94590016) (← links)
• A novel genomic region on chromosome 11 associated with fearfulness in dogs (Q95936562) (← links)
• Properties of structural variants and short tandem repeats associated with gene expression and complex traits (Q96303196) (← links)