[Prenatal diagnosis of chromosomal disorders]

The Italian external quality assessment scheme in classical cytogenetics: four years of activity.

Community genetics·2008

Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.

Child: care, health and development·2005

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

American journal of medical genetics. Part A·2005

Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations.

Prenatal diagnosis·2003

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

Neurology·2003

FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes.

American journal of medical genetics·1999

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

Clinical characteristics and treatment strategies of brainstem lesion in children with neurofibromatosis type 1.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery·2026

Risk assessment of early-onset sepsis in extremely preterm infants: implications for antibiotic stewardship.

Journal of perinatology : official journal of the California Perinatal Association·2026

Diaphragm ultrasound and lung aeration in small-for-gestational-age versus appropriate-for-gestational-age newborns: a cross-sectional study.

Journal of perinatology : official journal of the California Perinatal Association·2026

Variants of varying clinical consequence (VVCCs) are associated with differing penetrance and expressivity in children with CRMS/CFSPID.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2026

Management and outcomes of paediatric non-parasitic splenic cysts: A multi-centre retrospective cohort study and systematic review.

Journal of pediatric surgery·2026

Tracheopexy for Severe Tracheobronchomalacia in Children with Bronchopulmonary Dysplasia: A Two-Center Study of Patient Characteristics and Outcomes.

Journal of pediatric surgery·2026

Related Experiment Videos

[Prenatal diagnosis of chromosomal disorders]

Related Concept Videos

The Italian external quality assessment scheme in classical cytogenetics: four years of activity.

Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations.

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes.

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.

Clinical characteristics and treatment strategies of brainstem lesion in children with neurofibromatosis type 1.

Risk assessment of early-onset sepsis in extremely preterm infants: implications for antibiotic stewardship.

Diaphragm ultrasound and lung aeration in small-for-gestational-age versus appropriate-for-gestational-age newborns: a cross-sectional study.

Variants of varying clinical consequence (VVCCs) are associated with differing penetrance and expressivity in children with CRMS/CFSPID.

Management and outcomes of paediatric non-parasitic splenic cysts: A multi-centre retrospective cohort study and systematic review.

Tracheopexy for Severe Tracheobronchomalacia in Children with Bronchopulmonary Dysplasia: A Two-Center Study of Patient Characteristics and Outcomes.

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[Prenatal diagnosis of chromosomal disorders]

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