A new case of alpha-1-antitrypsin frameshift mutation (1123insT) causing severe deficiency and emphysema

Isolation of sterol mutants inChlamydomonas reinhardi: Chromatographic analyses.

Lipids·2016

Advances in the metabolic profiling of acidic compounds in children's urines achieved by comprehensive two-dimensional gas chromatography.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences·2015

The importance of EN ISO 15189 accreditation of allergen-specific IgE determination for reliable in vitro allergy diagnosis.

Allergy·2014

Casein-specific IL-4- and IL-13-secreting T cells: a tool to implement diagnosis of cow's milk allergy.

Allergy·2014

Quantification of circulating house dust mite-specific IL-4- and IL-13-secreting T cells correlates with rhinitis severity in asthmatic children and varies with the seasons.

Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology·2014

Training police as specialists in family crisis intervention: A community psychology action program.

Community mental health journal·2013

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

Human Variation-Informed Prioritization of MPHOSPH6 in Lung Adenocarcinoma: A Source-Aware Multiomics Evidence Framework.

Human mutation·2026

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.

Human mutation·2026

Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung Adenocarcinoma.

Human mutation·2026

A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary Dyskinesia.

Human mutation·2026

Erratum: Association Between the Japanese Version of Montreal Cognitive Assessment Tasks and Driving as the Primary Mode of Transport Among Community-Dwelling Older Adults.

Canadian geriatrics journal : CGJ·2026

Adult-Diagnosed Alagille Syndrome Presenting as Isolated Liver Disease.

Journal of clinical and experimental hepatology·2026

The Novel Allele, HLA-DPA1*01:213, With a Non-Synonymous Mutation in Exon 3.

HLA·2026

Adult subarachnoid hemorrhage from vein of Galen aneurysmal malformation due to ruptured feeder aneurysm: A case report with long-term MRI review.

Radiology case reports·2026

Novel Heterozygous Variant in RP1L1 Gene With Retinitis Pigmentosa Phenotype: A Case Report.

Ophthalmic surgery, lasers & imaging retina·2025

Large Infected Abdominal Wall Abscess Following a Minor Mechanical Strain: A Case Report.

Cureus·2025

Related Experiment Videos

A new case of alpha-1-antitrypsin frameshift mutation (1123insT) causing severe deficiency and emphysema

Related Concept Videos

Isolation of sterol mutants inChlamydomonas reinhardi: Chromatographic analyses.

Advances in the metabolic profiling of acidic compounds in children's urines achieved by comprehensive two-dimensional gas chromatography.

The importance of EN ISO 15189 accreditation of allergen-specific IgE determination for reliable in vitro allergy diagnosis.

Casein-specific IL-4- and IL-13-secreting T cells: a tool to implement diagnosis of cow's milk allergy.

Quantification of circulating house dust mite-specific IL-4- and IL-13-secreting T cells correlates with rhinitis severity in asthmatic children and varies with the seasons.

Training police as specialists in family crisis intervention: A community psychology action program.

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.

Human Variation-Informed Prioritization of MPHOSPH6 in Lung Adenocarcinoma: A Source-Aware Multiomics Evidence Framework.

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.

Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung Adenocarcinoma.

A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary Dyskinesia.

Erratum: Association Between the Japanese Version of Montreal Cognitive Assessment Tasks and Driving as the Primary Mode of Transport Among Community-Dwelling Older Adults.

Adult-Diagnosed Alagille Syndrome Presenting as Isolated Liver Disease.

The Novel Allele, HLA-DPA1*01:213, With a Non-Synonymous Mutation in Exon 3.

Adult subarachnoid hemorrhage from vein of Galen aneurysmal malformation due to ruptured feeder aneurysm: A case report with long-term MRI review.

Novel Heterozygous Variant in RP1L1 Gene With Retinitis Pigmentosa Phenotype: A Case Report.

Large Infected Abdominal Wall Abscess Following a Minor Mechanical Strain: A Case Report.

Related Experiment Videos

A new case of alpha-1-antitrypsin frameshift mutation (1123insT) causing severe deficiency and emphysema

Related Concept Videos

Related Articles