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Nature Genetics, ISSN 1061-4036, 09/2013, Volume 45, Issue 9, pp. 1050 - 1054
Journal Article
eLife, ISSN 2050-084X, 04/2015, Volume 4, p. e06315
Many Mendelian traits are likely unrecognized owing to absence of traditional segregation patterns in families due to causation by de novo mutations,... 
human biology | incomplete penetrance | de novo mutation | voltage-gated calcium channel | exome sequencing | genes | chromosomes | adrenal gland | medicine | CaV3.2 | human | CHILDHOOD ABSENCE EPILEPSY | GENETIC-VARIATION | HYPERALDOSTERONISM TYPE-II | GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM | BIOLOGY | WHOLE-GENOME ASSOCIATION | CA2+ CHANNEL | T-TYPE | GLOMERULOSA CELLS | FAMILIAL HYPERALDOSTERONISM | SOMATIC MUTATIONS | Recurrence | Aldosterone - biosynthesis | Calcium - metabolism | Humans | Hyperaldosteronism - pathology | Middle Aged | Hyperaldosteronism - complications | Child, Preschool | Molecular Sequence Data | Zona Glomerulosa - pathology | Infant | Male | Hyperaldosteronism - metabolism | Calcium Channels, T-Type - metabolism | Adult | Female | Calcium Channels, T-Type - genetics | Hypertension - genetics | Child | Calcium Signaling | Amino Acid Sequence | Gene Expression | Hyperaldosteronism - genetics | Aldosterone - secretion | Genotype | Zona Glomerulosa - metabolism | Hypertension - pathology | Hypertension - metabolism | Phenotype | Sequence Alignment | Membrane Potentials | Adolescent | Age of Onset | Hypertension - complications | Heterozygote | Mutation | Hypertension | Haplotypes | Pediatrics | Nephrology | Calcium (intracellular) | Statistical analysis | Genomics | Genes | Calcium channels (voltage-gated) | Genomes | Aldosterone | Morbidity | Calcium signalling | Consortia | Pathology | Children | Age
Journal Article
Journal Article
Annals of the New York Academy of Sciences, ISSN 0077-8923, 12/2018, Volume 1433, Issue 1, pp. 7 - 11
Journal Article
Neuron, ISSN 0896-6273, 07/2018, Volume 99, Issue 2, pp. 302 - 314.e4
Journal Article