Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease

Selenium status of low-selenium area residents: Polish experience.

Toxicology letters·2002

Comparison of gravimetry and hydrolysis/derivatization/gas chromatography-mass spectrometry for quantitative analysis of fat from standard reference infant formula powder using supercritical fluid extraction.

Journal of agricultural and food chemistry·2002

Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.

American journal of medical genetics·2001

Diphtheria toxin A gene-mediated HIV-1 protection of cord blood-derived T cells in the SCID-hu mouse model.

Journal of hematotherapy·1998

Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.

Journal of medical genetics·1996

Increased urinary nitrite excretion in children with minimal change nephrotic syndrome.

The Journal of pediatrics·1996

VarSim: A Python Toolkit for HGVS Variant Description Validation, Normalization, and Representation Conversion.

Human mutation·2026

Somatic Mutation-Informed Transcriptional Architecture of Hepatocellular Carcinoma: A Multiomics Study Centered on TP53.

Human mutation·2026

Pathogenic Mechanisms of Two Novel Variants in the GJB1 Gene.

Human mutation·2026

Xeroderma Pigmentosum Monozygotic Twins: Same Mutation Divergent Clinical Outcomes.

Human mutation·2026

X;7 Translocation at p21.1 and q31.31 Disrupting DMD: A Multiomics Study of a Male Dystrophinopathy Case.

Human mutation·2026

A Regulator SNP Affecting the Transcription Factor SP1 Binding Site in the PIK3R3 Gene Contributes to Noise-Induced Hearing Loss Risk.

Human mutation·2026

Different variants, different cellular outcomes: Balanced KIF1A activity shapes synapse development.

The Journal of cell biology·2026

Correction: Prenatal and neonatal housing conditions affect anxiety-like behavior in adulthood in rats and interact with brain-derived neurotrophic factor (BDNF) Val66Met to alter expression of BDNF and stress markers in the ventral hippocampus.

Frontiers in molecular neuroscience·2026

Intrafamilial phenotypic variation in four Palestinian siblings with CFAP418-related ciliopathy: a familial case series.

BMC ophthalmology·2026

Genetic variants in NEF2L2 rs35652124 and GABRB3 rs2081648 genes: association with autism spectrum disorder in Iraqi children.

Neuroscience·2026

Phenotypic spectrum of 1q21.1 copy number variants in 42 children: genotype-phenotype correlations and clinical implications.

European journal of pediatrics·2026

Estimating the Heritability of Intelligence with a Nuclear Twin Family Design.

Twin research and human genetics : the official journal of the International Society for Twin Studies·2026

Related Experiment Videos

Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease

Related Concept Videos

Selenium status of low-selenium area residents: Polish experience.

Comparison of gravimetry and hydrolysis/derivatization/gas chromatography-mass spectrometry for quantitative analysis of fat from standard reference infant formula powder using supercritical fluid extraction.

Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.

Diphtheria toxin A gene-mediated HIV-1 protection of cord blood-derived T cells in the SCID-hu mouse model.

Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.

Increased urinary nitrite excretion in children with minimal change nephrotic syndrome.

VarSim: A Python Toolkit for HGVS Variant Description Validation, Normalization, and Representation Conversion.

Somatic Mutation-Informed Transcriptional Architecture of Hepatocellular Carcinoma: A Multiomics Study Centered on TP53.

Pathogenic Mechanisms of Two Novel Variants in the GJB1 Gene.

Xeroderma Pigmentosum Monozygotic Twins: Same Mutation Divergent Clinical Outcomes.

X;7 Translocation at p21.1 and q31.31 Disrupting DMD: A Multiomics Study of a Male Dystrophinopathy Case.

A Regulator SNP Affecting the Transcription Factor SP1 Binding Site in the PIK3R3 Gene Contributes to Noise-Induced Hearing Loss Risk.

Different variants, different cellular outcomes: Balanced KIF1A activity shapes synapse development.

Correction: Prenatal and neonatal housing conditions affect anxiety-like behavior in adulthood in rats and interact with brain-derived neurotrophic factor (BDNF) Val66Met to alter expression of BDNF and stress markers in the ventral hippocampus.

Intrafamilial phenotypic variation in four Palestinian siblings with CFAP418-related ciliopathy: a familial case series.

Genetic variants in NEF2L2 rs35652124 and GABRB3 rs2081648 genes: association with autism spectrum disorder in Iraqi children.

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Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease

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