Interpreting three new and unique BRCA1 mutations in an Ashkenazi Jewish patient

[Suicidal gas embolism in hospital].

Rechtsmedizin (Berlin, Germany)·2021

New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives.

Journal of anatomy·2019

Sheathless coupling of microchip electrophoresis to ESI-MS utilising an integrated photo polymerised membrane for electric contacting.

Analytical and bioanalytical chemistry·2018

Dysregulation of the (immuno)proteasome pathway in malformations of cortical development.

Journal of neuroinflammation·2016

Promoter-Specific Hypomethylation Correlates with IL-1β Overexpression in Tuberous Sclerosis Complex (TSC).

Journal of molecular neuroscience : MN·2016

Expression of microRNAs miR21, miR146a, and miR155 in tuberous sclerosis complex cortical tubers and their regulation in human astrocytes and SEGA-derived cell cultures.

Glia·2016

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Bupleuri Radix- Aurantii Fructus Immaturus pair attenuates metabolic dysfunction-associated fatty liver disease in association with modulation of PI3K/Akt-GSK3β/FoxO1 pathway: Evidence from multi-model validation including human iPSC-derived liver organoids.

Journal of ethnopharmacology·2026

Spatiotemporal tracking of tumor microenvironment and drug efficacy using embedded SERS nanosensors.

Biosensors & bioelectronics·2026

A simple, anesthesia-free infusion technique for in vivo metabolic tracing.

Science advances·2026

From biochemical markers to machine learning: a review of postmortem interval estimation via vitreous humor analysis.

International journal of legal medicine·2026

Atrial Flutter Secondary to Severe Laxative-Induced Hypomagnesemia in Anorexia Nervosa: A Case Report.

Cureus·2026

An Integrated Analysis of Manganese Metabolism-Related Genes and Their Association With Biomarkers, Immune Infiltration, and Clinical Subtypes in Alzheimer's Disease.

Genes, brain, and behavior·2026

Related Experiment Videos

Interpreting three new and unique BRCA1 mutations in an Ashkenazi Jewish patient

Related Concept Videos

[Suicidal gas embolism in hospital].

New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives.

Sheathless coupling of microchip electrophoresis to ESI-MS utilising an integrated photo polymerised membrane for electric contacting.

Dysregulation of the (immuno)proteasome pathway in malformations of cortical development.

Promoter-Specific Hypomethylation Correlates with IL-1β Overexpression in Tuberous Sclerosis Complex (TSC).

Expression of microRNAs miR21, miR146a, and miR155 in tuberous sclerosis complex cortical tubers and their regulation in human astrocytes and SEGA-derived cell cultures.

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Bupleuri Radix- Aurantii Fructus Immaturus pair attenuates metabolic dysfunction-associated fatty liver disease in association with modulation of PI3K/Akt-GSK3β/FoxO1 pathway: Evidence from multi-model validation including human iPSC-derived liver organoids.

Spatiotemporal tracking of tumor microenvironment and drug efficacy using embedded SERS nanosensors.

A simple, anesthesia-free infusion technique for in vivo metabolic tracing.

From biochemical markers to machine learning: a review of postmortem interval estimation via vitreous humor analysis.

Atrial Flutter Secondary to Severe Laxative-Induced Hypomagnesemia in Anorexia Nervosa: A Case Report.

An Integrated Analysis of Manganese Metabolism-Related Genes and Their Association With Biomarkers, Immune Infiltration, and Clinical Subtypes in Alzheimer's Disease.

Related Experiment Videos

Interpreting three new and unique BRCA1 mutations in an Ashkenazi Jewish patient

Related Concept Videos

Related Articles