[Factors predisposing to chromosome pathology]

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.

Italian journal of pediatrics·2018

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

Clinical genetics·2017

A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.

Gene·2013

De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia.

Molecular syndromology·2013

Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement.

Cytogenetic and genome research·2013

Agenesis of internal carotid artery and hypopituitarism: case report and review of literature.

The Journal of clinical endocrinology and metabolism·2012

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

Prenatal Fetal Growth Restriction and Cardiomyopathy Associated With an Unbalanced der(15)t(7;15): A Case Report.

Clinical case reports·2026

Primary Abdominal Ectopic Pregnancy Involving the Spleen: A Case Study.

Case reports in obstetrics and gynecology·2026

Frequency and Subtypes of <i>Blastocystis</i> in Patients with Diarrhea in Van, Türkiye 2022-2023.

Iranian journal of parasitology·2026

The Frequency of Severe Hemolytic Disease of the Fetus and Newborn Caused by Red Blood Cell Alloantibodies Undetected at the Antibodies Screening in the First Trimester: A Prospective Study.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie·2026

Endocardial Fibroelastosis as an Early and Isolated Ultrasound Marker of Anti-Ro/SSA(B) Antibodies in the Fetus.

Journal of clinical ultrasound : JCU·2026

Comparison between oral dydrogesterone versus no drugs in clinical outcome within the natural cycle-frozen-thawed embryo transfer cycle: a retrospective analysis.

BMC pregnancy and childbirth·2026

Related Experiment Videos

[Factors predisposing to chromosome pathology]

Related Concept Videos

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.

De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia.

Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement.

Agenesis of internal carotid artery and hypopituitarism: case report and review of literature.

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.

Prenatal Fetal Growth Restriction and Cardiomyopathy Associated With an Unbalanced der(15)t(7;15): A Case Report.

Primary Abdominal Ectopic Pregnancy Involving the Spleen: A Case Study.

Frequency and Subtypes of <i>Blastocystis</i> in Patients with Diarrhea in Van, Türkiye 2022-2023.

The Frequency of Severe Hemolytic Disease of the Fetus and Newborn Caused by Red Blood Cell Alloantibodies Undetected at the Antibodies Screening in the First Trimester: A Prospective Study.

Endocardial Fibroelastosis as an Early and Isolated Ultrasound Marker of Anti-Ro/SSA(B) Antibodies in the Fetus.

Comparison between oral dydrogesterone versus no drugs in clinical outcome within the natural cycle-frozen-thawed embryo transfer cycle: a retrospective analysis.

Related Experiment Videos

[Factors predisposing to chromosome pathology]

Related Concept Videos

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