[Use of a genetic consultation service]

Congenital heart defects in the recurrent 2q13 deletion syndrome.

European journal of medical genetics·2021

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

Clinical genetics·2018

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Clinical genetics·2018

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Clinical genetics·2017

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Clinical genetics·2017

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Molecular syndromology·2013

Breast carcinoma metastasizing to an adrenocortical adenoma: a case of tumour-to-tumour metastasis.

Pathologica·2026

Metastatic melanoma with heterologous bone after neoadjuvant immunotherapy: diagnostic insights.

Pathologica·2026

Lymphangitic breast cancer in explanted lungs with interstitial lung disease: an unexpected finding.

Pathologica·2026

Histological insights into sudden, unexpected death due to tuberculosis: two autopsy case reports and review of the literature.

Pathologica·2026

Teaching with human remains: curatorship, technological innovation and ethical engagement at the Morgagni Museum of Human Anatomy.

Pathologica·2026

Technical feasibility of a long read, fourth generation sequencing platform in diagnostic profiling of clinical routine samples: a proof-of-concept study.

Pathologica·2026

Base-pair resolution conservation data improves cell type specific sequence-to-expression prediction.

Bioinformatics (Oxford, England)·2026

Two pore domain THIK2 potassium channels regulate acute and chronic pain signaling.

Pain reports·2026

Ionotropic glutamate receptor expression and function in the Drosophila testis stem cell niche.

microPublication biology·2026

Global burden of gout attributable to high BMI (1990-2021) and causal link with obesity: a GBD and Mendelian randomization study.

Therapeutic advances in endocrinology and metabolism·2026

Psoriasis as a spatial immune ecosystem: insights from single-cell and spatial transcriptomics.

Frontiers in immunology·2026

Islet-autoantibodies in gestational diabetes and risk of progression to postpartum diabetes: a systematic review and meta-analysis.

Frontiers in endocrinology·2026

Related Experiment Videos

[Use of a genetic consultation service]

Related Concept Videos

Congenital heart defects in the recurrent 2q13 deletion syndrome.

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Breast carcinoma metastasizing to an adrenocortical adenoma: a case of tumour-to-tumour metastasis.

Metastatic melanoma with heterologous bone after neoadjuvant immunotherapy: diagnostic insights.

Lymphangitic breast cancer in explanted lungs with interstitial lung disease: an unexpected finding.

Histological insights into sudden, unexpected death due to tuberculosis: two autopsy case reports and review of the literature.

Teaching with human remains: curatorship, technological innovation and ethical engagement at the Morgagni Museum of Human Anatomy.

Technical feasibility of a long read, fourth generation sequencing platform in diagnostic profiling of clinical routine samples: a proof-of-concept study.

Base-pair resolution conservation data improves cell type specific sequence-to-expression prediction.

Two pore domain THIK2 potassium channels regulate acute and chronic pain signaling.

Ionotropic glutamate receptor expression and function in the Drosophila testis stem cell niche.

Global burden of gout attributable to high BMI (1990-2021) and causal link with obesity: a GBD and Mendelian randomization study.

Psoriasis as a spatial immune ecosystem: insights from single-cell and spatial transcriptomics.

Islet-autoantibodies in gestational diabetes and risk of progression to postpartum diabetes: a systematic review and meta-analysis.

Related Experiment Videos

[Use of a genetic consultation service]

Related Concept Videos

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