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21 results on '"Brown, Natasha"'

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1. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

2. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

3. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

4. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

5. THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

6. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

8. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

9. A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

10. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

11. Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

13. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

17. Contributors

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