[Pathology of chromosome 16]

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

Crystal structure of the NKX2-1 homeodomain bound to a palindromic DNA recognition sequence.

Acta crystallographica. Section F, Structural biology communications·2026

Recurrent episodes of hypoglycemia as an initial presentation of pituitary stalk interruption syndrome: A case report.

Radiology case reports·2026

EXTL3 dysfunction identified as a driver of aberrant bone development in severe familial ankylosing spondylitis.

Annals of the rheumatic diseases·2026

Dopamine Receptor D2 gene Polymorphisms rs2005313, rs4274224, and rs4938019 in Pakistani Patients with Schizophrenia:a Diagnostic Tool for Schizophrenia.

Journal of molecular neuroscience : MN·2026

Approach to The Patient With Combined Pituitary Hormone Deficiency Due to a Novel Homozygous LHX3 Variant.

Clinical endocrinology·2026

CCDC149: a novel gene associated with hypopituitarism and neurodevelopmental impairment.

European journal of endocrinology·2026

Related Experiment Videos

[Pathology of chromosome 16]

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.

Crystal structure of the NKX2-1 homeodomain bound to a palindromic DNA recognition sequence.

Recurrent episodes of hypoglycemia as an initial presentation of pituitary stalk interruption syndrome: A case report.

EXTL3 dysfunction identified as a driver of aberrant bone development in severe familial ankylosing spondylitis.

Dopamine Receptor D2 gene Polymorphisms rs2005313, rs4274224, and rs4938019 in Pakistani Patients with Schizophrenia:a Diagnostic Tool for Schizophrenia.

Approach to The Patient With Combined Pituitary Hormone Deficiency Due to a Novel Homozygous LHX3 Variant.

CCDC149: a novel gene associated with hypopituitarism and neurodevelopmental impairment.

Related Experiment Videos

[Pathology of chromosome 16]

Related Concept Videos

Related Articles