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1-2 of 2 results for R138Q

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Select article: Presentation of a recurrent FMR1 missense mutation (R138Q) in an affected female

Open access

Case report

First published December 20, 2018

Presentation of a recurrent FMR1 missense mutation (R138Q) in an affected female

Jullianne Diaz, Cathy Scheiner, Eyby Leon

Translational Science of Rare Diseases

Select article: Nucleotide Variations in the NPHS2 Gene in Greek Children with Steroid-Resistant Nephrotic Syndrome

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Research article

First published April, 2009

Nucleotide Variations in the NPHS2 Gene in Greek Children with Steroid-Resistant Nephrotic Syndrome

Spyridon Megremis, Andromachi Mitsioni, Artemis G. Mitsioni [...]

Genetic Testing and Molecular Biomarkers

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