A fok1 polymorphism in the human neuronal nicotinic acetylcholine receptor alpha 4 subunit gene

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

Neuropediatrics·2017

New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputation.

The pharmacogenomics journal·2017

No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients.

Translational psychiatry·2017

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

Human genomics·2016

Copy number variants and therapeutic response to antidepressant medication in major depressive disorder.

The pharmacogenomics journal·2014

A pocket of very high suicide rates in a non-violent, egalitarian and cooperative population of South-East Asia.

Psychological medicine·2014

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Targeting conserved interaction surfaces of alphavirus nsP4 supports the rational design of live-attenuated vaccine candidates.

mBio·2026

Novel Therapeutic Insights Into Alzheimer's Disease: Glymphatic System and Meningeal Lymphatic Vessels.

Aging cell·2026

Catheter ablation for idiopathic premature ventricular complexes: a single-centre experience.

The British journal of cardiology·2026

Feasibility Study of Renal Negative Pressure Treatment After Cardiac Surgery With Cardiopulmonary Bypass.

Annals of thoracic surgery short reports·2026

Effect of ultrasound-guided superior laryngeal nerve block on intubation-induced haemodynamic changes in hypertensive patients: A randomised clinical trial.

Indian journal of anaesthesia·2026

Subclavian Artery Tortuosity Mimicking a Carotid Aneurysm: A Case Report.

Cureus·2026

Related Experiment Videos

A fok1 polymorphism in the human neuronal nicotinic acetylcholine receptor alpha 4 subunit gene

Related Concept Videos

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputation.

No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients.

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

Copy number variants and therapeutic response to antidepressant medication in major depressive disorder.

A pocket of very high suicide rates in a non-violent, egalitarian and cooperative population of South-East Asia.

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A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

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A fok1 polymorphism in the human neuronal nicotinic acetylcholine receptor alpha 4 subunit gene

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