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

Loss-Of-Function CCM Gene Variants in Japanese Patients With Cerebral Cavernous Malformations.

Clinical genetics·2026

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Clinical genetics·2026

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Clinical genetics·2026

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

Clinical genetics·2026

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

Clinical genetics·2026

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

Differential Expression of miR-146a, IL-31, and IL-33 in Osteoporosis and their Associations with Disease Severity.

Combinatorial chemistry & high throughput screening·2026

Hyperammonaemic encephalopathy following bariatric surgery: detailed biochemical phenotyping and pathophysiology informed treatment.

European journal of clinical nutrition·2026

Glycocalyx and Metabolomic Profiles After Trauma Across Age and Frailty Groups: A Pilot Study.

The Journal of surgical research·2026

Association Between Obesity Severity and Bioelectrical Impedance Analysis-Derived Metabolic Age in Individuals with Type 2 Diabetes Mellitus.

Metabolites·2026

Causal Effects of Plasma Metabolites on Intervertebral Disc Degeneration and Low Back Pain: A Mendelian Randomization Study.

Metabolites·2026

Thiol-Disulfide Homeostasis and Erythrocyte Glutathione Balance in ST-Elevation Myocardial Infarction: A Prospective Case-Control Study.

Journal of cardiovascular development and disease·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.

Loss-Of-Function CCM Gene Variants in Japanese Patients With Cerebral Cavernous Malformations.

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

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.

Differential Expression of miR-146a, IL-31, and IL-33 in Osteoporosis and their Associations with Disease Severity.

Hyperammonaemic encephalopathy following bariatric surgery: detailed biochemical phenotyping and pathophysiology informed treatment.

Glycocalyx and Metabolomic Profiles After Trauma Across Age and Frailty Groups: A Pilot Study.

Association Between Obesity Severity and Bioelectrical Impedance Analysis-Derived Metabolic Age in Individuals with Type 2 Diabetes Mellitus.

Causal Effects of Plasma Metabolites on Intervertebral Disc Degeneration and Low Back Pain: A Mendelian Randomization Study.

Thiol-Disulfide Homeostasis and Erythrocyte Glutathione Balance in ST-Elevation Myocardial Infarction: A Prospective Case-Control Study.

Related Experiment Videos

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

Related Concept Videos

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