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A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings.
Analysis of a Repetitive Language Coding System: Comparisons between Fragile X Syndrome, Autism, and Down Syndrome.
Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
Outcome measures for clinical trials in fragile X syndrome.
Targeted treatments for fragile X syndrome.
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Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study. Pediatrics. 2017 Jun; 139(Suppl 3):S216-S225.
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PubMed
subject areas
Adaptation, Psychological
Alleles
Cross-Sectional Studies
Decision Support Techniques
Early Diagnosis
Early Medical Intervention
Female
Follow-Up Studies
Fragile X Mental Retardation Protein
Fragile X Syndrome
Genetic Carrier Screening
Humans
Infant, Newborn
Male
Neonatal Screening
Parental Consent
Parents
Patient Acceptance of Health Care
Pilot Projects
Trinucleotide Repeats
United States
authors with profiles
Elizabeth M Berry-Kravis