A kindred with familial cold urticaria: linkage analysis

Assessment of the effects of cinnamon leaf oil on rumen microbial fermentation using two continuous culture systems.

Journal of dairy science·2007

The molecular spectrum of beta-thalassemia and abnormal hemoglobins in the allochthonous and autochthonous dutch population.

Community genetics·2004

Molecular spectrum of beta-thalassemia in the Iranian Province of Hormozgan.

Hemoglobin·2001

An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations.

American journal of human genetics·2001

Different geographic origins of Hb Constant Spring [alpha(2) codon 142 TAA-->CAA].

Haematologica·2001

alpha-thalassaemia as a result of a novel splice donor site mutation of the alpha1-globin gene.

British journal of haematology·2000

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Journal of medical genetics·2026

Enrichment of an Ehlers-Danlos-like phenotype in women with the FMR1 premutation: a pilot study.

Journal of medical genetics·2026

Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial.

Journal of medical genetics·2026

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Journal of medical genetics·2026

Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.

Journal of medical genetics·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

Rare germline variants in canonical and candidate genes in apparently sporadic bilateral primary aldosteronism.

Journal of the Endocrine Society·2026

Specific whole-chromosome identification of the A01/C1 homoeologs through oligonucleotide-based chromosome painting in Brassica species.

The Plant journal : for cell and molecular biology·2026

A Novel Frameshift Variant in SPAG1 Likely Causes Primary Ciliary Dyskinesia in Cocker Spaniels in Australia.

Animal genetics·2026

Multi-omics identification of ZFPM2 and CD44 as key candidates for testicular size in sheep.

Theriogenology·2026

Related Experiment Videos

A kindred with familial cold urticaria: linkage analysis

Related Concept Videos

Assessment of the effects of cinnamon leaf oil on rumen microbial fermentation using two continuous culture systems.

The molecular spectrum of beta-thalassemia and abnormal hemoglobins in the allochthonous and autochthonous dutch population.

Molecular spectrum of beta-thalassemia in the Iranian Province of Hormozgan.

An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations.

Different geographic origins of Hb Constant Spring [alpha(2) codon 142 TAA-->CAA].

alpha-thalassaemia as a result of a novel splice donor site mutation of the alpha1-globin gene.

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Enrichment of an Ehlers-Danlos-like phenotype in women with the FMR1 premutation: a pilot study.

Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial.

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.

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.

Rare germline variants in canonical and candidate genes in apparently sporadic bilateral primary aldosteronism.

Specific whole-chromosome identification of the A01/C1 homoeologs through oligonucleotide-based chromosome painting in Brassica species.

A Novel Frameshift Variant in SPAG1 Likely Causes Primary Ciliary Dyskinesia in Cocker Spaniels in Australia.

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Related Experiment Videos

A kindred with familial cold urticaria: linkage analysis

Related Concept Videos

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