[Prenatal results in genetic osteochondrodysplasia. Diagnostic protocol]

Atypical Post-Injection Reactions with Delayed Onset Following Glatiramer Acetate 40 mg: Need for Titration?

CNS drugs·2018

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.

American journal of medical genetics·2001

Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings.

Clinical dysmorphology·2001

Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantú syndrome): a new case with unusual radiological findings.

American journal of medical genetics·2000

Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation.

Biochemical and molecular medicine·1998

A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis.

Clinical genetics·1997

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

Pulmonary Veno-Occlusive Disease Presenting as Congenital Heart Disease-Associated Pulmonary Hypertension.

JACC. Case reports·2026

Diagnostic Role of Complete Blood Count (CBC) and C-reactive Protein (CRP) in Suspected Early-Onset Sepsis and Antibiotic Stewardship in the Neonatal Intensive Care Unit (NICU).

Cureus·2026

The applications, complications, and management of neonatal peripherally inserted central catheters (n-PICCs): a narrative review.

Frontiers in pediatrics·2026

RAS/MAPK pathway modulation with simvastatin in children with Noonan syndrome: a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

EClinicalMedicine·2026

Clinical determinants of mortality in congenital diaphragmatic hernia: a single-center cohort study from Colombia.

Frontiers in pediatrics·2026

Correlation analysis of cyclosporine A trough concentration with hematological and biochemical parameters: a retrospective study in pediatric aplastic anemia.

Frontiers in pediatrics·2026

Related Experiment Videos

[Prenatal results in genetic osteochondrodysplasia. Diagnostic protocol]

Related Concept Videos

Atypical Post-Injection Reactions with Delayed Onset Following Glatiramer Acetate 40 mg: Need for Titration?

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.

Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings.

Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantú syndrome): a new case with unusual radiological findings.

Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation.

A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis.

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.

Pulmonary Veno-Occlusive Disease Presenting as Congenital Heart Disease-Associated Pulmonary Hypertension.

Diagnostic Role of Complete Blood Count (CBC) and C-reactive Protein (CRP) in Suspected Early-Onset Sepsis and Antibiotic Stewardship in the Neonatal Intensive Care Unit (NICU).

The applications, complications, and management of neonatal peripherally inserted central catheters (n-PICCs): a narrative review.

RAS/MAPK pathway modulation with simvastatin in children with Noonan syndrome: a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

Clinical determinants of mortality in congenital diaphragmatic hernia: a single-center cohort study from Colombia.

Correlation analysis of cyclosporine A trough concentration with hematological and biochemical parameters: a retrospective study in pediatric aplastic anemia.

Related Experiment Videos

[Prenatal results in genetic osteochondrodysplasia. Diagnostic protocol]

Related Concept Videos

Related Articles