[New chromosomal syndromes: autosomal pathology. Introduction]

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

First-trimester serum SHBG and vaspin as combined biomarkers for predicting gestational diabetes mellitus: a case-control accuracy study.

Hormone molecular biology and clinical investigation·2026

Beyond Serum Testosterone: Sexual Experience Delays The Decline Of Sexual Behavior And Preserves Cellular Density In The Medial Preoptic Area of Gonadectomized Male Rats.

Behavioural processes·2026

Correction: Editorial Note: How sex chromosomes get trapped into nonrecombination.

PLoS biology·2026

Divergent C. elegans toxin alleles are suppressed by distinct mechanisms.

eLife·2026

"Male Predominance and Pubertal Resolution in Vernal Keratoconjunctivitis: Exploring Associations with Ocular Surface Sex Steroid Intracrinology".

The ocular surface·2026

Social isolation upregulates takeout expression in female Drosophila melanogaster to promote sucrose preference.

PLoS genetics·2026

Related Experiment Videos

[New chromosomal syndromes: autosomal pathology. Introduction]

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.

First-trimester serum SHBG and vaspin as combined biomarkers for predicting gestational diabetes mellitus: a case-control accuracy study.

Beyond Serum Testosterone: Sexual Experience Delays The Decline Of Sexual Behavior And Preserves Cellular Density In The Medial Preoptic Area of Gonadectomized Male Rats.

Correction: Editorial Note: How sex chromosomes get trapped into nonrecombination.

Divergent C. elegans toxin alleles are suppressed by distinct mechanisms.

"Male Predominance and Pubertal Resolution in Vernal Keratoconjunctivitis: Exploring Associations with Ocular Surface Sex Steroid Intracrinology".

Social isolation upregulates takeout expression in female Drosophila melanogaster to promote sucrose preference.

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[New chromosomal syndromes: autosomal pathology. Introduction]

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