[A case of pure, clear, "de novo" trisomy 9p]

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

Exploring how understanding of the equals sign relates to additive and multiplicative equivalence performance beyond arithmetic fluency.

Journal of experimental child psychology·2026

Higher holonomy for curved L∞-algebras 1: simplicial methods.

Philosophical transactions. Series A, Mathematical, physical, and engineering sciences·2026

An operadic proof of the Bogomolov-Tian-Todorov theorem.

Philosophical transactions. Series A, Mathematical, physical, and engineering sciences·2026

The Quantitative Dimension of Kind Concepts.

Cognitive science·2026

Why is There a Left-Hander's Advantage in Elite Women's Épée? Insights From Match Performance Analysis of the 2017-2019 World Championships.

Perceptual and motor skills·2026

The simplicity of the Hodge bundle.

Proceedings of the National Academy of Sciences of the United States of America·2026

Related Experiment Videos

[A case of pure, clear, "de novo" trisomy 9p]

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.

Exploring how understanding of the equals sign relates to additive and multiplicative equivalence performance beyond arithmetic fluency.

Higher holonomy for curved L∞-algebras 1: simplicial methods.

An operadic proof of the Bogomolov-Tian-Todorov theorem.

The Quantitative Dimension of Kind Concepts.

Why is There a Left-Hander's Advantage in Elite Women's Épée? Insights From Match Performance Analysis of the 2017-2019 World Championships.

The simplicity of the Hodge bundle.

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[A case of pure, clear, "de novo" trisomy 9p]

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