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15 results on '"Cormand, B"'

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1. Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

2. Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease

3. Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

4. Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

5. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

6. Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: Genome-wide association study of both common and rare variants

7. Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients

8. Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

9. Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions

10. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

11. Analysis of shared heritability in common disorders of the brain

12. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

13. Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder

14. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

15. PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

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