Publication A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
Publication Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report.
Publication Clinicians in 25 countries prefer to use lower levels of oxygen to resuscitate preterm infants at birth.
Publication Cystatin C Based Equation Accurately Estimates Glomerular Filtration Rate in Children With Solid and Central Nervous System Tumours: Enough Evidence to Change Practice?
Publication Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Publication Effectiveness of motor interventions in infants with cerebral palsy: a systematic review.
Publication Evolution of Depression and Anxiety Symptoms in Parents of Very Preterm Infants During the Newborn Period.
