Publication Relationships between age and epi-genotype of the FMR1 exon 1 / intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.
Publication Application of a new molecular technique for the genetic evaluation of products of conception.
Publication Indicators of Optimal Lung Volume During High-Frequency Oscillatory Ventilation in Infants*
Publication Demographic and personal factors associated with metabolic control and self-care in youth with type 1 diabetes: a systematic review.
Publication Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?
Publication The effect of height, weight and head circumference on gross motor development in achondroplasia.
Publication Bilateral Posterior Periventricular Nodular Heterotopia: A Recognizable Cortical Malformation with a Spectrum of Associated Brain Abnormalities.
Publication Analysis of RAD51D in Ovarian Cancer Patients and Families with a History of Ovarian or Breast Cancer.
Publication Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance.
