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

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

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

A Practical Workflow for Reliable MALDI-Based Hydrogen/Deuterium Exchange Mass Spectrometry.

Mass spectrometry (Tokyo, Japan)·2026

Whole-Blood Metal(loid) Profiles Including Macroelements in Relation to Short-Term Glycemic Status: A Metallome-Based Analysis.

Environmental pollution (Barking, Essex : 1987)·2026

Differential analysis of volatile and non-volatile constituents of Epimedium koreanum Nakai processed with various mutton oils by chemometric methods.

Journal of chromatography. A·2026

Gut microbiota and fecal metabolomic alterations in hospitalized patients with Staphylococcus aureus infection: an exploratory multi-omics study.

Frontiers in cellular and infection microbiology·2026

Patterns and potential predictors of impaired semen quality: Insights from a retrospective analysis in Al Kharj, Saudi Arabia.

Urologia·2026

Alcohol Intake and Bone Microarchitecture Deterioration in Older Men: The Prospective Structure of Aging Men's Bones (STRAMBO) Study.

Journal of bone metabolism·2026

Related Experiment Videos

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

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[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.

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.

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

A Practical Workflow for Reliable MALDI-Based Hydrogen/Deuterium Exchange Mass Spectrometry.

Whole-Blood Metal(loid) Profiles Including Macroelements in Relation to Short-Term Glycemic Status: A Metallome-Based Analysis.

Differential analysis of volatile and non-volatile constituents of Epimedium koreanum Nakai processed with various mutton oils by chemometric methods.

Gut microbiota and fecal metabolomic alterations in hospitalized patients with Staphylococcus aureus infection: an exploratory multi-omics study.

Patterns and potential predictors of impaired semen quality: Insights from a retrospective analysis in Al Kharj, Saudi Arabia.

Alcohol Intake and Bone Microarchitecture Deterioration in Older Men: The Prospective Structure of Aging Men's Bones (STRAMBO) Study.

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

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