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M. Falk et al.
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FM Hantash et al.
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JH Fanos et al.
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A Saluto et al.
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S Sherman et al.
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Cost-effectiveness analysis of prenatal population-based fragile X carrier screening
TJ Musci et al.
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A Cronister et al.
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Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
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Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay -: art. no. e45
Y Zhou et al.
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Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia
P Ciotti et al.
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Fragile X-associated tremor/ataxia syndrome (FXTAS)
PJ Hagerman et al.
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Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory setting
CM Strom et al.
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Screening for fragile X syndrome: Parent attitudes and perspectives
D Skinner et al.
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Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel
H Toledano-Alhadef et al.
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