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Mucin agarose gel electrophoresis: Western blotting for high-molecularweight glycoproteinsConventional methods to separate mucin macromolecules by electrophoresis using an agarose gel and transfer protein into nitrocellulose membrane
Research
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesSystematic sequencing of all X-chromosomal genes in patients with genetic evidence for X-chromosome locus involvement may resolve 58% of Fragile X-negative cases
Research
International research utilizing the Early Development Instrument (EDI) as a measure of early child development: Introduction to the Special IssueThis opening paper presents the background to this Special Issue devoted to new international research using Early Development Instrument
Research
Human papillomavirus (HPV)-16/18 AS04-adjuvanted vaccine for the prevention of cervical cancer and HPV-related diseasesHPV-16/18 AS04-adjuvanted vaccine reduces HPV-16/18 infection and associated cervical endpoints in women regardless of age, location, or sexual experience
Publications from 2017 dating back to 2004 of CDKL5 researchers.
We aim to share our research findings with families so that they may better understand Rett syndrome and the future for their family.
We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.
For this study, we examined how Rett syndrome characteristics can be affected by X-inactivation for 2 of the common types of mutation - p.R168X and p.T158M.
We set out to describe the feeding difficulties and nutrition of girls with Rett syndrome and to examine what factors may be influencing their nutrition.
Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes.