6 results on '"Rieubland, Claudine"'
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2. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
3. Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia
4. Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
5. Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death
6. Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results
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