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Waggoner, Darrel J.
One or more keywords matched the following items that are connected to Waggoner, Darrel J.
Item TypeName
Concept Mass Screening
Concept Infant, Newborn
Concept Genetic Carrier Screening
Concept Failure to Thrive
Concept Neonatal Screening
Academic Article Unique cardiac and cerebral anomalies with chondrodysplasia punctata.
Academic Article Clinic-based study of plexiform neurofibromas in neurofibromatosis 1.
Academic Article Vertebral anomalies in a new family with ODED syndrome.
Academic Article Ophthalmoplegia in maple syrup urine disease.
Academic Article "Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
Academic Article Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance.
Academic Article NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
Academic Article Expanding newborn screening for lysosomal disorders: opportunities and challenges.
Academic Article Parents: critical stakeholders in expanding newborn screening.
Academic Article Internet resources in medical genetics.
Academic Article Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.
Academic Article Chondrodysplasia punctata associated with malabsorption from bariatric procedures.
Academic Article RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis.
Academic Article Prenatal diagnostic conundrum involving a novel ATP7A duplication.
Academic Article An unusual case of an infant with failure to thrive.
Academic Article Disclosure of genetic research results to members of a founder population.
Academic Article A Review of Fanconi Anemia for the Practicing Pediatrician.
Academic Article The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)?.
Academic Article Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation.
Academic Article Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.
Search Criteria
  • Failed
  • Newborn
  • Hearing
  • Screen