Works matching IS 03406717 AND DT 2023 AND VI 142 AND IP 8
Results: 24
Editorial for the Neurogenetics and Neurogenomics special issue.
- Published in:
- 2023
- By:
- Publication type:
- Editorial
Comparative neurogenetics of dog behavior complements efforts towards human neuropsychiatric genetics.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1231, doi. 10.1007/s00439-023-02580-y
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- Publication type:
- Article
Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1303, doi. 10.1007/s00439-023-02577-7
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- Publication type:
- Article
Migraine, chronic kidney disease and kidney function: observational and genetic analyses.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1185, doi. 10.1007/s00439-023-02575-9
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- Publication type:
- Article
Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1055, doi. 10.1007/s00439-023-02572-y
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- Publication type:
- Article
A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1221, doi. 10.1007/s00439-023-02571-z
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- Publication type:
- Article
Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1113, doi. 10.1007/s00439-023-02568-8
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- Publication type:
- Article
Cellular senescence and neurodegeneration.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1247, doi. 10.1007/s00439-023-02565-x
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- Publication type:
- Article
Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1043, doi. 10.1007/s00439-023-02564-y
- By:
- Publication type:
- Article
The exocyst complex in neurological disorders.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1263, doi. 10.1007/s00439-023-02558-w
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- Publication type:
- Article
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1001, doi. 10.1007/s00439-023-02556-y
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- Publication type:
- Article
Demographic diversity of genetic databases used in Alzheimer's disease research.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1215, doi. 10.1007/s00439-023-02551-3
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- Publication type:
- Article
Direct and indirect impact of SARS-CoV-2 on the brain.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1317, doi. 10.1007/s00439-023-02549-x
- By:
- Publication type:
- Article
Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1271, doi. 10.1007/s00439-023-02541-5
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- Publication type:
- Article
TMEM151A variants associated with paroxysmal kinesigenic dyskinesia.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1017, doi. 10.1007/s00439-023-02535-3
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- Publication type:
- Article
oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1281, doi. 10.1007/s00439-023-02534-4
- By:
- Publication type:
- Article
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1029, doi. 10.1007/s00439-023-02533-5
- By:
- Publication type:
- Article
Cross-trait analyses identify shared genetics between migraine, headache, and glycemic traits, and a causal relationship with fasting proinsulin.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1149, doi. 10.1007/s00439-023-02532-6
- By:
- Publication type:
- Article
Transcriptomic reprogramming for neuronal age reversal.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1293, doi. 10.1007/s00439-023-02529-1
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- Publication type:
- Article
Phenome-wide genetic-correlation analysis and genetically informed causal inference of amyotrophic lateral sclerosis.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1173, doi. 10.1007/s00439-023-02525-5
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- Publication type:
- Article
Toward a comprehensive catalog of regulatory elements.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1091, doi. 10.1007/s00439-023-02519-3
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- Publication type:
- Article
Mendelian randomization analysis reveals causal relationships between gut microbiome and optic neuritis.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1139, doi. 10.1007/s00439-022-02514-0
- By:
- Publication type:
- Article
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1077, doi. 10.1007/s00439-022-02506-0
- By:
- Publication type:
- Article
Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1201, doi. 10.1007/s00439-022-02482-5
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- Publication type:
- Article