[Effects of oxidants and antioxidants on chromosome breaks in Fanconi's anemia]

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

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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

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Diagnostic cytopathology·2026

Aging-enhanced accumulation of fibroblasts excludes oligodendrocytes in demyelinated lesions.

Journal of neuroinflammation·2026

Ribosome biogenesis and selective translational control as oncogenic vulnerabilities in hematologic malignancies.

Molecular cancer·2026

Massive enlargement of a previously unrecognized bronchogenic cyst over 8 years with intracystic hemorrhage and complex surgical resection: a case report.

General thoracic and cardiovascular surgery cases·2026

Anti-thymocyte globulin triggers TNF-dependent cell death in T-cell acute lymphoblastic leukemia.

Nature communications·2026

Context Is Everything: Tumour-Type-Dependent Prioritisation of Tumour-Intrinsic, Microenvironmental and Host Determinants of Response to Immune-Checkpoint Blockade.

Critical reviews in oncology/hematology·2026

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[Effects of oxidants and antioxidants on chromosome breaks in Fanconi's anemia]

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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.

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