[Trisomy 10p due to t(Y;10)(p11; p11) "de novo"]

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

A multidisciplinary team approach to a neonate with a rare primary mediastinal tumor: a case report.

Folia medica·2026

Non-invasive mechanical ventilation in children: a four-year retrospective review.

Folia medica·2026

Refractory Kawasaki Disease in Infants Complicated with Giant Coronary Artery Aneurysms and Takayasu Arteritis: A Rare Case Report and Literature Review.

Vascular health and risk management·2026

Preserved inflammatory homeostasis during emergency transport: a multibiomarker assessment of neonatal RDS transfers.

Turkish journal of medical sciences·2026

Recurrent Contralateral Parotitis With Initial Neonatal Onset: A Rare Case Report.

Cureus·2026

Clinical Characteristics and Surgical Outcomes of Paediatric Thyroid Disorders in a Nigerian Mission Hospital: A Nine-Year Review.

Nigerian medical journal : journal of the Nigeria Medical Association·2026

Related Experiment Videos

[Trisomy 10p due to t(Y;10)(p11; p11) "de novo"]

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.

A multidisciplinary team approach to a neonate with a rare primary mediastinal tumor: a case report.

Non-invasive mechanical ventilation in children: a four-year retrospective review.

Refractory Kawasaki Disease in Infants Complicated with Giant Coronary Artery Aneurysms and Takayasu Arteritis: A Rare Case Report and Literature Review.

Preserved inflammatory homeostasis during emergency transport: a multibiomarker assessment of neonatal RDS transfers.

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[Trisomy 10p due to t(Y;10)(p11; p11) "de novo"]

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