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Clinical Genetics|November 3, 2020
Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and miceLucia Sentchordi-Montané, Francisca Diaz-Gonzalez, Elena V Cátedra-Vallés, et al.
Frontiers in Genetics|January 23, 2023
Case report: A third variant in the 5' UTR of <i>TWIST1</i> creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndromeFrancisca Diaz-Gonzalez, Javier M Sacedo-Gutiérrez, Stephen R F Twigg, et al.
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