(ATTT)n-tetranucleotide repeat polymorphism in the 5'-flanking region of the UGB gene

Pupillary response to percutaneous auricular vagus nerve stimulation in alcohol withdrawal syndrome: A pilot trial.

Alcohol (Fayetteville, N.Y.)·2023

[Multimodal diagnostic of CSNB1 with NYX gene mutation].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·2019

[Inherited retinal or optic nerve disorders – five steps to diagnosis].

Klinische Monatsblatter fur Augenheilkunde·2015

Functional electrostimulation of paraplegics: experimental investigations and first clinical experience with an implantable stimulation device.

Orthopedics·2014

[The degradation of reserve fat in the cotyledons of Sinapis alba L. under the influence of phytochrome].

Planta·2014

[Evidence-based diagnostic approach to inherited retinal dystrophies 2009].

Klinische Monatsblatter fur Augenheilkunde·2009

Parkinson's disease-associated LRRK2 risk variant, G2385R, enhances Rab substrate phosphorylation and impairs neuronal integrity.

Human molecular genetics·2026

Pleiotropy and eQTL analysis identify shared genetic architecture of lipid traits in African-ancestry populations.

Human molecular genetics·2026

Multidisciplinary pathogenicity assessment of congenital hypothyroidism-associated SLC5A5 gene variants.

Human molecular genetics·2026

Molecular basis of mucopolysaccharidosis IVA in a large cohort: genotype-phenotype correlations and reporting of 12 novel GALNS variants.

Human molecular genetics·2026

Shared genetic architecture of schizophrenia and lupus identifies pleiotropic loci with distinct downstream mechanisms.

Human molecular genetics·2026

Motor dysfunction phenotypes in a drosophila model validate DAO as an ALS gene.

Human molecular genetics·2026

Gut microbiota and the gut-brain axis in autism spectrum disorder and attention-deficit/hyperactivity disorder: A scoping review of shared and disorder-specific mechanistic pathways.

AIMS microbiology·2026

Case Report: Neonatal lethality caused by novel compound heterozygous missense variants of SLC6A9 gene.

Frontiers in pediatrics·2026

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders.

medRxiv : the preprint server for health sciences·2026

A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome.

medRxiv : the preprint server for health sciences·2026

Two siblings presented with spastic paraplegia and psychomotor retardation with or without seizures with HACE1 variants: A case report and literature review.

Medicine·2026

A Case of Early-Onset VCP-Related Frontotemporal Dementia: Insights from Neuroimaging and Genetic Analysis.

The Yale journal of biology and medicine·2026

Related Experiment Videos

(ATTT)n-tetranucleotide repeat polymorphism in the 5'-flanking region of the UGB gene

Related Concept Videos

Pupillary response to percutaneous auricular vagus nerve stimulation in alcohol withdrawal syndrome: A pilot trial.

[Multimodal diagnostic of CSNB1 with NYX gene mutation].

[Inherited retinal or optic nerve disorders – five steps to diagnosis].

Functional electrostimulation of paraplegics: experimental investigations and first clinical experience with an implantable stimulation device.

[The degradation of reserve fat in the cotyledons of Sinapis alba L. under the influence of phytochrome].

[Evidence-based diagnostic approach to inherited retinal dystrophies 2009].

Parkinson's disease-associated LRRK2 risk variant, G2385R, enhances Rab substrate phosphorylation and impairs neuronal integrity.

Pleiotropy and eQTL analysis identify shared genetic architecture of lipid traits in African-ancestry populations.

Multidisciplinary pathogenicity assessment of congenital hypothyroidism-associated SLC5A5 gene variants.

Molecular basis of mucopolysaccharidosis IVA in a large cohort: genotype-phenotype correlations and reporting of 12 novel GALNS variants.

Shared genetic architecture of schizophrenia and lupus identifies pleiotropic loci with distinct downstream mechanisms.

Motor dysfunction phenotypes in a drosophila model validate DAO as an ALS gene.

Gut microbiota and the gut-brain axis in autism spectrum disorder and attention-deficit/hyperactivity disorder: A scoping review of shared and disorder-specific mechanistic pathways.

Case Report: Neonatal lethality caused by novel compound heterozygous missense variants of SLC6A9 gene.

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders.

A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome.

Two siblings presented with spastic paraplegia and psychomotor retardation with or without seizures with HACE1 variants: A case report and literature review.

A Case of Early-Onset VCP-Related Frontotemporal Dementia: Insights from Neuroimaging and Genetic Analysis.

Related Experiment Videos

(ATTT)n-tetranucleotide repeat polymorphism in the 5'-flanking region of the UGB gene

Related Concept Videos

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