A novel intronic polymorphism (intron 2 +130 (CT)n) in the human homeobox gene HOXB3

Indoor birch pollen concentrations differ with ventilation scheme, room location, and meteorological factors.

Indoor air·2016

[European Association of Urology guidelines on urinary and male genital tract infections].

Der Urologe. Ausg. A·2003

Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.

International journal of molecular medicine·1998

Facial palsy and Lyme borreliosis: long-term follow-up of children with antibiotically untreated "idiopathic" facial palsy.

Klinische Padiatrie·1997

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.

American journal of medical genetics·1996

[Cerebral palsy (I)--an analysis of the concept].

Klinische Padiatrie·1996

TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation.

Human mutation·2026

Association Between Mutation Context-Associated RUNX1 Transcriptional States and Immune-Stromal Heterogeneity in Nonsmall Cell Lung Cancer.

Human mutation·2026

The Role of Genetic Variation in Phenotypic Variability in Loeys-Dietz Syndrome.

Human mutation·2026

Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.

Human mutation·2026

Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the Human MCPH1 Gene: Systematic In Silico Predictions and Implications for Structure and Function.

Human mutation·2026

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Human mutation·2026

The role of ferroptosis in juvenile idiopathic arthritis: Causal inference and mediation by immune phenotypes.

Medicine·2026

Generation and characterization of an isogenic gene-corrected iPSC line CARIMi009-A-1 from a Hutchinson-Gilford Progeria Syndrome (HGPS) patient with a heterozygous G608G mutation in the LMNA gene.

Stem cell research·2026

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio-based Whole-Exome Sequencing.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026

Integrated Genomic and Proteomic Analysis Reveals T-B Lymphocyte Signatures in the MYCN Driven "Immune Desert" of Specific Neuroblastoma Subtypes.

CNS neuroscience & therapeutics·2026

Genetic Modifiers of Cardiac Remodeling Severity in IVS4+919G>A-Associated Fabry Cardiomyopathy.

International journal of molecular sciences·2026

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies.

Genes·2026

Related Experiment Videos

A novel intronic polymorphism (intron 2 +130 (CT)n) in the human homeobox gene HOXB3

Related Concept Videos

Indoor birch pollen concentrations differ with ventilation scheme, room location, and meteorological factors.

[European Association of Urology guidelines on urinary and male genital tract infections].

Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages.

Facial palsy and Lyme borreliosis: long-term follow-up of children with antibiotically untreated "idiopathic" facial palsy.

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.

[Cerebral palsy (I)--an analysis of the concept].

TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation.

Association Between Mutation Context-Associated RUNX1 Transcriptional States and Immune-Stromal Heterogeneity in Nonsmall Cell Lung Cancer.

The Role of Genetic Variation in Phenotypic Variability in Loeys-Dietz Syndrome.

Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.

Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the Human MCPH1 Gene: Systematic In Silico Predictions and Implications for Structure and Function.

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

The role of ferroptosis in juvenile idiopathic arthritis: Causal inference and mediation by immune phenotypes.

Generation and characterization of an isogenic gene-corrected iPSC line CARIMi009-A-1 from a Hutchinson-Gilford Progeria Syndrome (HGPS) patient with a heterozygous G608G mutation in the LMNA gene.

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio-based Whole-Exome Sequencing.

Integrated Genomic and Proteomic Analysis Reveals T-B Lymphocyte Signatures in the MYCN Driven "Immune Desert" of Specific Neuroblastoma Subtypes.

Genetic Modifiers of Cardiac Remodeling Severity in IVS4+919G>A-Associated Fabry Cardiomyopathy.

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Related Experiment Videos

A novel intronic polymorphism (intron 2 +130 (CT)n) in the human homeobox gene HOXB3

Related Concept Videos

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