Prenatal diagnosis of neural tube defects

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

COVID-19 Vaccine Effectiveness and Safety for the 2026-2027 Respiratory Season.

JAMA·2026

Influenza Vaccine Effectiveness and Safety for the 2026-2027 Respiratory Season.

JAMA·2026

RSV Immunization Effectiveness and Safety for the 2026-2027 Respiratory Season.

JAMA·2026

Morphological Variability of the P1 Segment of the Posterior Cerebral Artery: An Anatomical and Angiographic Study with Clinical Correlations.

Chirurgia (Bucharest, Romania : 1990)·2026

Epithelioid hemangioma from inferior turbinate in a pediatric patient: a case report.

Journal of surgical case reports·2026

Norepinephrine Versus Dopamine as Initial Vasoactive Therapy in Neonatal Septic Shock: A Randomized Controlled Trial in a Tertiary Care Neonatal Intensive Care Unit in Eastern India.

Cureus·2026

Nailfold Capillary Morphology as a Potential Biomarker of Cardiovascular or Metabolic Risk in Children Aged 3-17 Years Prenatally Exposed to Alcohol.

Alcohol, clinical & experimental research·2026

Same-day discharge after pediatric neurosurgical procedures: a single-institution experience.

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

Reference values for serum proenkephalin in a pediatric and young adult cohort.

Clinical biochemistry·2026

Related Experiment Videos

Prenatal diagnosis of neural tube defects

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.

COVID-19 Vaccine Effectiveness and Safety for the 2026-2027 Respiratory Season.

Influenza Vaccine Effectiveness and Safety for the 2026-2027 Respiratory Season.

RSV Immunization Effectiveness and Safety for the 2026-2027 Respiratory Season.

Morphological Variability of the P1 Segment of the Posterior Cerebral Artery: An Anatomical and Angiographic Study with Clinical Correlations.

Epithelioid hemangioma from inferior turbinate in a pediatric patient: a case report.

Norepinephrine Versus Dopamine as Initial Vasoactive Therapy in Neonatal Septic Shock: A Randomized Controlled Trial in a Tertiary Care Neonatal Intensive Care Unit in Eastern India.

Nailfold Capillary Morphology as a Potential Biomarker of Cardiovascular or Metabolic Risk in Children Aged 3-17 Years Prenatally Exposed to Alcohol.

Same-day discharge after pediatric neurosurgical procedures: a single-institution experience.

Reference values for serum proenkephalin in a pediatric and young adult cohort.

Related Experiment Videos

Prenatal diagnosis of neural tube defects

Related Concept Videos

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