Polymorphic variants within the homeobox gene MSX1: a candidate gene for developmental disorders

De novo SCN1A mutations in migrating partial seizures of infancy.

Neurology·2011

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

Neurology·2011

The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies.

Neuroscience letters·2009

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

Journal of medical genetics·2007

Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.

Neuroscience·2007

A polygenic heterogeneity model for common epilepsies with complex genetics.

Genes, brain, and behavior·2007

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Clinical genetics·2026

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Clinical genetics·2026

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical genetics·2026

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Clinical genetics·2026

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Clinical genetics·2026

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Clinical genetics·2026

Lessons from a systematic review of family-based studies in ALS.

Amyotrophic lateral sclerosis & frontotemporal degeneration·2026

Spadmiss with basal ganglia calcification and multilocus genetic disease: a novel phenotypic expansion.

Annals of medicine and surgery (2012)·2026

Genome-wide meta-analysis with 1,590,596 individuals identifies 12 novel risk loci for systemic lupus erythematosus.

Mammalian genome : official journal of the International Mammalian Genome Society·2026

Biology-informed neural networks learn nonlinear representations from omics data to improve genomic prediction and biological discovery.

The Plant journal : for cell and molecular biology·2026

The causal role of plasma protein ratios in ulcerative colitis: insights from mendelian randomization and single-cell sequencing.

Open medicine (Warsaw, Poland)·2026

Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.

Human mutation·2026

Related Experiment Videos

Polymorphic variants within the homeobox gene MSX1: a candidate gene for developmental disorders

Related Concept Videos

De novo SCN1A mutations in migrating partial seizures of infancy.

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies.

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.

A polygenic heterogeneity model for common epilepsies with complex genetics.

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Lessons from a systematic review of family-based studies in ALS.

Spadmiss with basal ganglia calcification and multilocus genetic disease: a novel phenotypic expansion.

Genome-wide meta-analysis with 1,590,596 individuals identifies 12 novel risk loci for systemic lupus erythematosus.

Biology-informed neural networks learn nonlinear representations from omics data to improve genomic prediction and biological discovery.

The causal role of plasma protein ratios in ulcerative colitis: insights from mendelian randomization and single-cell sequencing.

Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.

Related Experiment Videos

Polymorphic variants within the homeobox gene MSX1: a candidate gene for developmental disorders

Related Concept Videos

Related Articles