Prenatal detection of neural tube defects: false positive and negative results

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Clinical genetics·2010

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

Clinical genetics·2007

The value of MLPA in Waardenburg syndrome.

Genetic testing·2007

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Prenatal diagnosis·2005

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Clinical genetics·2005

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Clinical genetics·2004

Trends in Pediatric Firearm Injuries: 2016-2023.

Pediatrics·2026

Association of Community Factors, Firearm Laws, and Pediatric Firearm Injuries.

Pediatrics·2026

Treatment and Outcomes of Kawasaki Disease Over 40 Years.

Pediatrics·2026

CART-Cell Therapy in Pediatric Acute Lymphoblastic Leukemia: A Review for General Pediatricians.

Pediatrics·2026

Clinicians' Experiences With Law Enforcement in a Pediatric Emergency Department.

Pediatrics·2026

Reducing Inequities in Restraint Use in the Pediatric Emergency Department.

Pediatrics·2026

A Case of a Fetus with a Chimeric Duplication of 9p21.1p13.1 and a Normal Pregnancy Outcome.

Clinical laboratory·2026

Incidence, Risk Factors and Mortality of Hospitalization Among Late Preterm Neonates at Jinja and Kayunga Regional Referral Hospitals, Eastern Uganda, Prospective Study.

Pediatric health, medicine and therapeutics·2026

Profile of Neonates Admitted With Hypoxic-Ischemic Encephalopathy and Early Neurodevelopment Outcomes: A Retrospective Cohort Study.

Journal of paediatrics and child health·2026

Parvovirus B19 infections in paediatric sickle cell disease patients: Genotype and hydroxyurea treatment influence disease severity.

British journal of haematology·2026

Neonatal Capillary Blood Sampling Procedure: A Scoping Review.

Hospital pediatrics·2026

A Rare Case Report of Nosocomial Urosepsis due to Klebsiella pneumoniae in a Preterm Neonate Complicated by Acute Cystitis.

Case reports in infectious diseases·2026

Related Experiment Videos

Prenatal detection of neural tube defects: false positive and negative results

Related Concept Videos

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

The value of MLPA in Waardenburg syndrome.

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Trends in Pediatric Firearm Injuries: 2016-2023.

Association of Community Factors, Firearm Laws, and Pediatric Firearm Injuries.

Treatment and Outcomes of Kawasaki Disease Over 40 Years.

CART-Cell Therapy in Pediatric Acute Lymphoblastic Leukemia: A Review for General Pediatricians.

Clinicians' Experiences With Law Enforcement in a Pediatric Emergency Department.

Reducing Inequities in Restraint Use in the Pediatric Emergency Department.

A Case of a Fetus with a Chimeric Duplication of 9p21.1p13.1 and a Normal Pregnancy Outcome.

Incidence, Risk Factors and Mortality of Hospitalization Among Late Preterm Neonates at Jinja and Kayunga Regional Referral Hospitals, Eastern Uganda, Prospective Study.

Profile of Neonates Admitted With Hypoxic-Ischemic Encephalopathy and Early Neurodevelopment Outcomes: A Retrospective Cohort Study.

Parvovirus B19 infections in paediatric sickle cell disease patients: Genotype and hydroxyurea treatment influence disease severity.

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Prenatal detection of neural tube defects: false positive and negative results

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