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

Zinc Transporter Gene Variants (SLC30A and SLC39A) in Human Disease: From Metal Homeostasis Disruption to Convergent Signaling Pathways.

Human mutation·2026

Knowledge Mapping of Human Genetic Variation in Multiomics Biomarker Translation: A Bibliometric Analysis.

Human mutation·2026

Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort Study.

Human mutation·2026

Pathogenic LRSAM1 RING Domain Variants Disrupt Intracellular Protein Localization in Charcot-Marie-Tooth Disease Type 2P.

Human mutation·2026

Clinical and Molecular Delineation of KAT6B-Related Disorders: Novel Variants and Refined Genotype-Phenotype Correlations.

Human mutation·2026

SCN5A U12-Type Minor Intron Variant Causes Cryptic Splicing and Cardiac Arrhythmia Disease.

Human mutation·2026

A Protective Haplotype in trans Modifies Penetrance and Severity of TOR1A Dystonia.

medRxiv : the preprint server for health sciences·2026

Clinical and Molecular Spectrum of KBG Syndrome in the Largest Independent Turkish Cohort: Novel ANKRD11 Variants, 16q24.3 Deletions, and Structural Insights for Robust ANKRD11 Variant Interpretation.

Balkan medical journal·2026

Autosomal recessive HOXA3 deficiency causes congenital athymia and laryngeal malformation.

The Journal of allergy and clinical immunology·2026

CRP-albumin-lymphocyte index and multisystem diseases: a phenome-wide Mendelian randomization study.

Molecular genetics and genomics : MGG·2026

Congenital Hyperinsulinism With Paternally Inherited ABCC8 Variants: A Single Center Experience Over a Decade in Singapore.

Journal of the ASEAN Federation of Endocrine Societies·2026

Gestational age modifies associations between Group B Streptococcus genomic characteristics and postnatal age at disease onset.

Nature communications·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].

Zinc Transporter Gene Variants (SLC30A and SLC39A) in Human Disease: From Metal Homeostasis Disruption to Convergent Signaling Pathways.

Knowledge Mapping of Human Genetic Variation in Multiomics Biomarker Translation: A Bibliometric Analysis.

Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort Study.

Pathogenic LRSAM1 RING Domain Variants Disrupt Intracellular Protein Localization in Charcot-Marie-Tooth Disease Type 2P.

Clinical and Molecular Delineation of KAT6B-Related Disorders: Novel Variants and Refined Genotype-Phenotype Correlations.

SCN5A U12-Type Minor Intron Variant Causes Cryptic Splicing and Cardiac Arrhythmia Disease.

A Protective Haplotype in trans Modifies Penetrance and Severity of TOR1A Dystonia.

Clinical and Molecular Spectrum of KBG Syndrome in the Largest Independent Turkish Cohort: Novel ANKRD11 Variants, 16q24.3 Deletions, and Structural Insights for Robust ANKRD11 Variant Interpretation.

Autosomal recessive HOXA3 deficiency causes congenital athymia and laryngeal malformation.

CRP-albumin-lymphocyte index and multisystem diseases: a phenome-wide Mendelian randomization study.

Congenital Hyperinsulinism With Paternally Inherited ABCC8 Variants: A Single Center Experience Over a Decade in Singapore.

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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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