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P096: QRICH1-related disorder: Phenotype expansion vs blended phenotype by Gulsen Akay, Vanina Taliercio, Janice Palumbos, David Viskochil
Published 2023-01-01
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Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability by Ruizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, Hatice Koçak Eker, Silvia R. Costa, Yavuz Sahin, Zeynep Ocak, Sedat Isikay, Ozge Ozalp, Sevcan Bozdogan, Huseyin Aslan, Nursel Elcioglu, Débora R. Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gulsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban-Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehlivan, Richard A. Gibbs, James R. Lupski
Published 2022-10-01
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