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Your search keyword '"Martin, Donna M"' showing total 14 results

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14 results on '"Martin, Donna M"'

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1. Genotype–phenotype correlations in individuals with pathogenic RERE variants

2. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

3. A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

4. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.

5. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait.

7. Disruption of RAB40AL function leads to MartineProbst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.

8. Common genetic variants, acting additively, are a major source of risk for autism.

9. PITX2, β-catenin and LEF-1 interact to synergistically regulate the LEF-1 promoter.

11. The impact of serotonin transporter (5-HTTLPR) genotype on the development of resting-state functional connectivity in children and adolescents: A preliminary report

12. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

13. Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

14. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

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