Novel silent variant (c1722G>A) in the coding region of the insulin receptor substrate 1 (IRS1) gene

Accuracy and self-validation of automated bone age determination.

Scientific reports·2022

[Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics].

Der Internist·2018

Molecular and clinical studies in 8 patients with Temple syndrome.

Clinical genetics·2018

Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.

Clinical genetics·2016

Recent Advances in Imprinting Disorders.

Clinical genetics·2016

NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.

Clinical genetics·2016

A Regulator SNP Affecting the Transcription Factor SP1 Binding Site in the PIK3R3 Gene Contributes to Noise-Induced Hearing Loss Risk.

Human mutation·2026

Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.

Human mutation·2026

Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations.

Human mutation·2026

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

Human mutation·2026

Genotype-Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants-New Cases and Systematic Review.

Human mutation·2026

A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental Disorders.

Human mutation·2026

Selective Limbic and Striatal Atrophy Corresponds to Regional Gene Expression in Leucine-Rich Glioma-Inactivated-1 Immunoglobulin G Autoimmune Encephalitis.

Annals of neurology·2026

Draft genome sequence of the moderately halophilic bacterium Vreelandella alkaliphila strain WG10-512 isolated from a Himalayan salt mine in India.

Microbiology resource announcements·2026

Genetic variation in IL-6 rs1800796 and its association with non-Hodgkin lymphoma susceptibility in the Egyptian population.

Journal of biosciences·2026

Assessing awareness toward genetic testing among patients with inherited retinal dystrophy in Japan.

Japanese journal of ophthalmology·2026

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility.

Prenatal diagnosis·2026

The causal relationship between antibody-mediated immune responses to infections and Graves' disease: a bi-directional Mendelian randomization analysis.

Experimental biology and medicine (Maywood, N.J.)·2026

Related Experiment Videos

Novel silent variant (c1722G>A) in the coding region of the insulin receptor substrate 1 (IRS1) gene

Related Concept Videos

Accuracy and self-validation of automated bone age determination.

[Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics].

Molecular and clinical studies in 8 patients with Temple syndrome.

Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.

Recent Advances in Imprinting Disorders.

NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.

A Regulator SNP Affecting the Transcription Factor SP1 Binding Site in the PIK3R3 Gene Contributes to Noise-Induced Hearing Loss Risk.

Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.

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Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

Genotype-Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants-New Cases and Systematic Review.

A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental Disorders.

Selective Limbic and Striatal Atrophy Corresponds to Regional Gene Expression in Leucine-Rich Glioma-Inactivated-1 Immunoglobulin G Autoimmune Encephalitis.

Draft genome sequence of the moderately halophilic bacterium Vreelandella alkaliphila strain WG10-512 isolated from a Himalayan salt mine in India.

Genetic variation in IL-6 rs1800796 and its association with non-Hodgkin lymphoma susceptibility in the Egyptian population.

Assessing awareness toward genetic testing among patients with inherited retinal dystrophy in Japan.

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility.

The causal relationship between antibody-mediated immune responses to infections and Graves' disease: a bi-directional Mendelian randomization analysis.

Related Experiment Videos

Novel silent variant (c1722G>A) in the coding region of the insulin receptor substrate 1 (IRS1) gene

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