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Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities
Pediatric Blood & Cancer, 06/17/09
Carlsson G et al. - The authors describe a patient with a compound heterozygous HAX1 mutation consisting of a nonsense mutation and a frame-shift mutation resulting in a premature stop codon. The patient has a history of neutropenia and a propensity for infections, but has shown no signs of neurodevelopmental abnormalities.
Today in Basic Science/Genetics...keeping you current
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Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI
Diabetes, 11/25/09
Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion
Pediatric Blood & Cancer, 11/25/09
The development and piloting of the ISPCAN Child Abuse Screening Tool-Parent version (ICAST-P)
Child Abuse and Neglect, 11/24/09
Today in Epidemiology...keeping you current
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Clinical parameters predicting failure of empirical antibacterial therapy in early onset neonatal sepsis, identified by classification and regression tree analysis
BMC Pediatrics, 11/25/09
Aggressive posterior retinopathy of prematurity in asian indian babies: spectrum of disease and outcome after laser treatment
Retina, 11/25/09
Respiratory syncytial virus infections in Central Australia
Journal of Paediatrics and Child Health, 11/25/09
Today in Pathology...keeping you current
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Application with repeated serum biomarkers in pediatric appendicitis in clinical surgery
Pediatric Surgery International, 11/25/09
Staphylococcus Aureus Bacteremia in Pediatric Patients With Cancer
The Pediatric Infectious Disease Journal, 11/25/09
Facial rhabdomyosarcoma with an isolated pancreatic metastasis
Pediatric Surgery International, 11/25/09
Today in Pediatric Emergencies...keeping you current
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Manual ventilation devices in neonatal resuscitation: Tidal volume and positive pressure-provision
Resuscitation, 11/24/09
Severe Postnatally Acquired Cytomegalovirus Infection Presenting with Colitis, Pneumonitis and Sepsis-Like Syndrome in an Extremely Low Birthweight Infant
Neonatology, 11/24/09
Characteristics and outcome of infants with candiduria in neonatal intensive care - a Paediatric Investigators Collaborative Network on Infections in Canada study
BMC Infectious Diseases, 11/24/09
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