A dinucleotide repeat and a Hae III polymorphism in the human nicotinic acetylcholine receptor alpha-subunit gene (CHRNA1)

Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes.

Human reproduction (Oxford, England)·2022

A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family.

Human reproduction (Oxford, England)·2018

Further mapping of the Idd5.1 locus for autoimmune diabetes in NOD mice.

Diabetes·2001

Linkage of HLA to myasthenia gravis and genetic heterogeneity depending on anti-titin antibodies.

Neurology·2001

Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.

Clinical genetics·2001

Genetic influences on the end-stage effector phase of arthritis.

The Journal of experimental medicine·2001

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Clinical genetics·2026

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Clinical genetics·2026

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

Clinical genetics·2026

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

Clinical genetics·2026

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

Do not stop at the variant: a reversible cause of small-fiber neuropathy symptoms in an ATTRv carrier.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2026

Combined effects of Ret coding and enhancer loss-of-function alleles cause progressive loss of inhibitory motor neurons in the enteric nervous system.

Genome research·2026

Mutation timing, accumulation, and selection in the male germline shape inheritance risk for developmental disorders.

Cell genomics·2026

Genetics of Educational Attainment and Childhood Problem Behavior: Direct Genetic Effects, Cognitive Pathways, and Sex Differences.

Behavior genetics·2026

Identification of Novel Co-Occurring ZNF711 and SRCAP Variants in a Child with Neurodevelopmental Disorders Through Exome Sequencing.

The application of clinical genetics·2026

Hox/Meis-dependent gene-regulatory transition underlies cardiopharyngeal neural crest diversification.

The EMBO journal·2026

Related Experiment Videos

A dinucleotide repeat and a Hae III polymorphism in the human nicotinic acetylcholine receptor alpha-subunit gene

Related Concept Videos

Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes.

A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family.

Further mapping of the Idd5.1 locus for autoimmune diabetes in NOD mice.

Linkage of HLA to myasthenia gravis and genetic heterogeneity depending on anti-titin antibodies.

Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.

Genetic influences on the end-stage effector phase of arthritis.

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

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.

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

Do not stop at the variant: a reversible cause of small-fiber neuropathy symptoms in an ATTRv carrier.

Combined effects of Ret coding and enhancer loss-of-function alleles cause progressive loss of inhibitory motor neurons in the enteric nervous system.

Mutation timing, accumulation, and selection in the male germline shape inheritance risk for developmental disorders.

Genetics of Educational Attainment and Childhood Problem Behavior: Direct Genetic Effects, Cognitive Pathways, and Sex Differences.

Identification of Novel Co-Occurring ZNF711 and SRCAP Variants in a Child with Neurodevelopmental Disorders Through Exome Sequencing.

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Related Experiment Videos

A dinucleotide repeat and a Hae III polymorphism in the human nicotinic acetylcholine receptor alpha-subunit gene...

Related Concept Videos

Related Articles

A dinucleotide repeat and a Hae III polymorphism in the human nicotinic acetylcholine receptor alpha-subunit gene