Screening the newborn for anatomic and metabolic defects

Malignancy in Noonan syndrome and related disorders.

Clinical genetics·2015

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.

Human genetics·2001

Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome.

The Journal of pediatrics·2000

Neurodevelopmental and neuroimaging correlates in nonsyndromal microcephalic children.

Journal of developmental and behavioral pediatrics : JDBP·2000

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

Journal of medical genetics·2000

Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.

American journal of medical genetics·1999

Centering Lived Experience: Inclusive Pediatric Care for Children Who Are Deaf and Hard of Hearing and Their Families.

Pediatric annals·2026

From Early Childhood to Adulthood: Implementing Neuroaffirming Health Care for Autistic Individuals.

Pediatric annals·2026

Neurodivergence in Medical Education: Current Landscape and Inclusive Future for Pediatrics.

Pediatric annals·2026

Neurodiversity and Intellectual Disability: Opportunities and Challenges for Functioning and Participation Across the Life Course.

Pediatric annals·2026

Action for Access: Equity for Children With Disabilities in Lowand Middle-Income Countries.

Pediatric annals·2026

Navigating Pediatric Urticaria: Diagnosis and Management for the Busy Pediatrician.

Pediatric annals·2026

Intracavitary electrocardiography for 1‑Fr epicutaneous‑cava catheter tip location in neonates: 6‑Year retrospective study.

The journal of vascular access·2026

CNN-stylized dual-path CNN-Transformer for fetal head and pubic symphysis segmentation in intrapartum ultrasound.

Frontiers in physiology·2026

Survival and Favorable Neurological Outcome Following Home Delivery at 22 Weeks of Gestation: A Case Report.

Cureus·2026

Diagnosis of Pituitary Stalk Interruption Syndrome in a Newborn Presenting With Recurrent Hypoglycemia: A Rare Case Report.

Cureus·2026

Diagnostic Accuracy of Hepatic Subcapsular Flow on Color Doppler Ultrasonography and Preoperative Liver Biopsy for the Diagnosis of Biliary Atresia in Neonatal Cholestasis: A Pilot Diagnostic Accuracy Study.

Cureus·2026

Age-Adjusted AFP Interpretation in Neonatal Sacrococcygeal Teratoma: Why Adult Reference Ranges May Mislead.

Clinical case reports·2026

Related Experiment Videos

Screening the newborn for anatomic and metabolic defects

Related Concept Videos

Malignancy in Noonan syndrome and related disorders.

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.

Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome.

Neurodevelopmental and neuroimaging correlates in nonsyndromal microcephalic children.

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.

Centering Lived Experience: Inclusive Pediatric Care for Children Who Are Deaf and Hard of Hearing and Their Families.

From Early Childhood to Adulthood: Implementing Neuroaffirming Health Care for Autistic Individuals.

Neurodivergence in Medical Education: Current Landscape and Inclusive Future for Pediatrics.

Neurodiversity and Intellectual Disability: Opportunities and Challenges for Functioning and Participation Across the Life Course.

Action for Access: Equity for Children With Disabilities in Lowand Middle-Income Countries.

Navigating Pediatric Urticaria: Diagnosis and Management for the Busy Pediatrician.

Intracavitary electrocardiography for 1‑Fr epicutaneous‑cava catheter tip location in neonates: 6‑Year retrospective study.

CNN-stylized dual-path CNN-Transformer for fetal head and pubic symphysis segmentation in intrapartum ultrasound.

Survival and Favorable Neurological Outcome Following Home Delivery at 22 Weeks of Gestation: A Case Report.

Diagnosis of Pituitary Stalk Interruption Syndrome in a Newborn Presenting With Recurrent Hypoglycemia: A Rare Case Report.

Diagnostic Accuracy of Hepatic Subcapsular Flow on Color Doppler Ultrasonography and Preoperative Liver Biopsy for the Diagnosis of Biliary Atresia in Neonatal Cholestasis: A Pilot Diagnostic Accuracy Study.

Age-Adjusted AFP Interpretation in Neonatal Sacrococcygeal Teratoma: Why Adult Reference Ranges May Mislead.

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Screening the newborn for anatomic and metabolic defects

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