檢索結果 - Cuellar, Araceli
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A Variant Associated with Sagittal Nonsyndromic Craniosynostosis Alters the Regulatory Function of a Non-Coding Element 由 Justice, Cristina M., Kim, Jinoh, Kim, Sun-Don, Kim, Kyunhgho, Yagnik, Garima, Cuellar, Araceli, Carrington, Blake, Lu, Chung-Ling, Sood, Raman, Boyadjiev, Simeon A., Wilson, Alexander F.
出版 2017Text -
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Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis 由 Justice, Cristina M., Musolf, Anthony M., Cuellar, Araceli, Lattanzi, Wanda, Simeonov, Emil, Kaneva, Radka, Paschall, Justin, Cunningham, Michael, Wilkie, Andrew O. M., Wilson, Alexander F., Romitti, Paul A., Boyadjiev, Simeon A.
出版 2022Text -
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Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis 由 Cuellar, Araceli, Bala, Krithi, Di Pietro, Lorena, Barba, Marta, Yagnik, Garima, Liu, Jia Lie, Stevens, Christina, Hur, David J., Ingersoll, Roxann G., Justice, Cristina M., Drissi, Hicham, Kim, Jinoh, Lattanzi, Wanda, Boyadjiev, Simeon A.
出版 2020Text -
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Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation 由 Calpena, Eduardo, Cuellar, Araceli, Bala, Krithi, Swagemakers, Sigrid M. A., Koelling, Nils, McGowan, Simon J., Phipps, Julie M., Balasubramanian, Meena, Cunningham, Michael L., Douzgou, Sofia, Lattanzi, Wanda, Morton, Jenny E. V., Shears, Deborah, Weber, Astrid, Wilson, Louise C., Lord, Helen, Lester, Tracy, Johnson, David, Wall, Steven A., Twigg, Stephen R. F., Mathijssen, Irene M. J., Boardman-Pretty, Freya, Boyadjiev, Simeon A., Wilkie, Andrew O. M.
出版 2020Text -
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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation 由 Calpena, Eduardo, Cuellar, Araceli, Bala, Krithi, Swagemakers, Sigrid M. A., Koelling, Nils, McGowan, Simon J., Phipps, Julie M., Balasubramanian, Meena, Cunningham, Michael L., Douzgou, Sofia, Lattanzi, Wanda, Morton, Jenny E. V., Shears, Deborah, Weber, Astrid, Wilson, Louise C., Lord, Helen, Lester, Tracy, Johnson, David, Wall, Steven A., Twigg, Stephen R. F., Mathijssen, Irene M. J., Boardman-Pretty, Freya, Boyadjiev, Simeon A., Wilkie, Andrew O. M.
出版 2020Text -
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A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis 由 Justice, Cristina M, Cuellar, Araceli, Bala, Krithi, Sabourin, Jeremy A, Cunningham, Michael L, Crawford, Karen, Phipps, Julie M, Zhou, Yan, Cilliers, Deirdre, Byren, Jo C, Johnson, David, Wall, Steven A, Morton, Jenny E V, Noons, Peter, Sweeney, Elizabeth, Weber, Astrid, Rees, Katie E M, Wilson, Louise C, Simeonov, Emil, Kaneva, Radka, Yaneva, Nadezhda, Georgiev, Kiril, Bussarsky, Assen, Senders, Craig, Zwienenberg, Marike, Boggan, James, Roscioli, Tony, Tamburrini, Gianpiero, Barba, Marta, Conway, Kristin, Sheffield, Val C, Brody, Lawrence, Mills, James L, Kay, Denise, Sicko, Robert J, Langlois, Peter H, Tittle, Rachel K, Botto, Lorenzo D, Jenkins, Mary M, LaSalle, Janine M, Lattanzi, Wanda, Wilkie, Andrew O M, Wilson, Alexander F, Romitti, Paul A, Boyadjiev, Simeon A
出版 2020Text