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

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

Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.

Human mutation·2026

Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations.

Human mutation·2026

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

Human mutation·2026

Two siblings presented with spastic paraplegia and psychomotor retardation with or without seizures with HACE1 variants: A case report and literature review.

Medicine·2026

A Case of Early-Onset VCP-Related Frontotemporal Dementia: Insights from Neuroimaging and Genetic Analysis.

The Yale journal of biology and medicine·2026

Genetic testing and counselling of patients with monogenic amyotrophic lateral sclerosis in Northern Finland: a retrospective, single-centre study.

European journal of human genetics : EJHG·2026

[Genetic therapies for Stargardt disease].

Die Ophthalmologie·2026

The NBGENS project protocol: Pilot study for genetic newborn screening in Galicia.

PloS one·2026

Targeted-Release Formulation Budesonide (Nefecon) for the Treatment of IgA Nephropathy in Three Adolescents.

Kidney360·2026

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.

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.

Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.

Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations.

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

Two siblings presented with spastic paraplegia and psychomotor retardation with or without seizures with HACE1 variants: A case report and literature review.

A Case of Early-Onset VCP-Related Frontotemporal Dementia: Insights from Neuroimaging and Genetic Analysis.

Genetic testing and counselling of patients with monogenic amyotrophic lateral sclerosis in Northern Finland: a retrospective, single-centre study.

[Genetic therapies for Stargardt disease].

The NBGENS project protocol: Pilot study for genetic newborn screening in Galicia.

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Related Experiment Videos

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

Related Concept Videos

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