Disease: TORCH syndrome
- A <em>de novo</em> heterozygous <em>POU3F3</em> genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature
- A Case of Fetal Familial Hemophagocytic Lymphohistiocytosis Type 5 caused by STXBP2 Gene Mutation
- A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2)
- A Case Report on Congenital Cytomegalovirus
- A Neonatal Patient Diagnosed with a <em>COL4A1</em> Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice
- Aicardi-Goutieres syndrome (AGS): recurrent fetal cardiomyopathy and pseudo-TORCH syndrome
- Aicardi-Goutières syndrome with <em>SAMHD1</em> deficiency can be diagnosed by unscheduled DNA synthesis test
- Aicardi-Goutieres syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test
- Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn - a Case Report
- Association of Pediatric Buccal Epigenetic Age Acceleration With Adverse Neonatal Brain Growth and Neurodevelopmental Outcomes Among Children Born Very Preterm With a Neonatal Infection
- Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth
- Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn
- Cataract surgery outcomes in pediatric patients with systemic comorbidities
- Causes of hearing loss and implantation age in a cohort of Danish pediatric cochlear implant recipients
- COL4A1-related disorder as a mimic of congenital TORCHES infection-Expanding the clinical, neuroimaging and genotype spectrum
- Congenital papulovesicular eruption mimicking TORCH syndrome in newborn
- Genetic causes of isolated and severe fetal growth restriction in normal chromosomal microarray analysis
- Juvenile Dermatomyositis and Infantile Cerebral Palsy: Aicardi-Gouteres Syndrome, Type 5, with a Novel Mutation in SAMHD1-A Case Report
- Melting curve analysis reveals false-positive norovirus detection in a molecular syndromic panel
- Neonatal Onset of Hemophagocytic Lymphohistiocytosis Due to Prenatal Varicella-Zoster Infection in a Neonate with Griscelli Syndrome Type 2
- Nucleotide metabolism, leukodystrophies, and CNS pathology
- Pediatric Cataract
- Roles of TGF-β1 in Viral Infection during Pregnancy: Research Update and Perspectives
- SARS-CoV-2 Infection Anxiety, Knowledge and Attitudes in University Degree Pregnant Women from Romania-A Cross-Sectional Observational Survey in the First Two Pandemic Years
- Surgical Myectomy and Myotomy for Refractory Blepharospasm in Meige Syndrome Patients: A Case Report
- Suspected Congenital Rubella Retinopathy: A Spectrum of the TORCH Syndrome
- The epidemiology and disease burden of congenital TORCH infections among hospitalized children in China: A national cross-sectional study
- The presence of white cell Jordan's anomaly in multiple Acyl-CoA dehydrogenase deficiency: A case report and implications for clinical practice
- Topical Diclofenac for Prevention of Capecitabine-Associated Hand-Foot Syndrome: A Double-Blind Randomized Controlled Trial
- TORCH Congenital Syndrome Infections in Central America's Northern Triangle
- Unveiling the pathophysiology of restless legs syndrome through transcriptome analysis
- Zika virus as a new pathogenic agent within the Toxoplasma gondii, Rubella virus, Cytomegalovirus, and Herpes simplex (TORCH) virus family: where do we stand?