Genetic diseases and testing in Ashkenazi Jews: Part 1

Beyond Threat: Changes in Visuocortical Engagement and Oscillatory Brain Activity during Non-Aversive Associative Learning.

bioRxiv : the preprint server for biology·2025

Door-to-puncture time in ischemic stroke with large vessel occlusion in France: Patient and hospital factors.

Revue neurologique·2025

International Regulatory Standards for the Qualitative Measurement of Deep Brain Stimulation in Clinical Research.

Journal of empirical research on human research ethics : JERHRE·2022

Reduced hypertrophy in vitro after chondrogenic differentiation of adult human mesenchymal stem cells following adenoviral SOX9 gene delivery.

BMC musculoskeletal disorders·2020

The inflamed biceps tendon as a pain generator in the shoulder: A histological and biomolecular analysis.

Journal of orthopaedic surgery (Hong Kong)·2019

Clinical implications of fracture-associated vascular damage in extremity and pelvic trauma.

BMC musculoskeletal disorders·2018

A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.

Genetic testing·2008

Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications.

Genetic testing·2008

Molecular prenatal diagnosis of muscular dystrophies in Tunisia and postnatal follow-up role.

Genetic testing·2008

The polymorphisms on Igkappa gene are related to susceptibility of breast cancer and gastric cancer.

Genetic testing·2008

Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population.

Genetic testing·2008

Prevalence of prothrombotic polymorphisms in Greece.

Genetic testing·2008

The role of ferroptosis in juvenile idiopathic arthritis: Causal inference and mediation by immune phenotypes.

Medicine·2026

Generation and characterization of an isogenic gene-corrected iPSC line CARIMi009-A-1 from a Hutchinson-Gilford Progeria Syndrome (HGPS) patient with a heterozygous G608G mutation in the LMNA gene.

Stem cell research·2026

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio-based Whole-Exome Sequencing.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026

Integrated Genomic and Proteomic Analysis Reveals T-B Lymphocyte Signatures in the MYCN Driven "Immune Desert" of Specific Neuroblastoma Subtypes.

CNS neuroscience & therapeutics·2026

Genetic Modifiers of Cardiac Remodeling Severity in IVS4+919G>A-Associated Fabry Cardiomyopathy.

International journal of molecular sciences·2026

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies.

Genes·2026

Related Experiment Videos

Genetic diseases and testing in Ashkenazi Jews: Part 1

Related Concept Videos

Beyond Threat: Changes in Visuocortical Engagement and Oscillatory Brain Activity during Non-Aversive Associative Learning.

Door-to-puncture time in ischemic stroke with large vessel occlusion in France: Patient and hospital factors.

International Regulatory Standards for the Qualitative Measurement of Deep Brain Stimulation in Clinical Research.

Reduced hypertrophy in vitro after chondrogenic differentiation of adult human mesenchymal stem cells following adenoviral SOX9 gene delivery.

The inflamed biceps tendon as a pain generator in the shoulder: A histological and biomolecular analysis.

Clinical implications of fracture-associated vascular damage in extremity and pelvic trauma.

A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.

Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications.

Molecular prenatal diagnosis of muscular dystrophies in Tunisia and postnatal follow-up role.

The polymorphisms on Igkappa gene are related to susceptibility of breast cancer and gastric cancer.

Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population.

Prevalence of prothrombotic polymorphisms in Greece.

The role of ferroptosis in juvenile idiopathic arthritis: Causal inference and mediation by immune phenotypes.

Generation and characterization of an isogenic gene-corrected iPSC line CARIMi009-A-1 from a Hutchinson-Gilford Progeria Syndrome (HGPS) patient with a heterozygous G608G mutation in the LMNA gene.

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio-based Whole-Exome Sequencing.

Integrated Genomic and Proteomic Analysis Reveals T-B Lymphocyte Signatures in the MYCN Driven "Immune Desert" of Specific Neuroblastoma Subtypes.

Genetic Modifiers of Cardiac Remodeling Severity in IVS4+919G>A-Associated Fabry Cardiomyopathy.

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies.

Related Experiment Videos

Genetic diseases and testing in Ashkenazi Jews: Part 1

Related Concept Videos

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