檢索結果 - Murdock, David
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Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy 由 Fleming, Leah, Lemmon, Monica, Beck, Natalie, Johnson, Maria, Mu, Weiyi, Murdock, David, Bodurtha, Joann, Hoover-Fong, Julie, Cohn, Ronald, Bosemani, Thangamadhan, Barañano, Kristin, Hamosh, Ada
出版 2015Text -
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Whole-Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent Polymicrogyria 由 Murdock, David R., Clark, Gary D., Bainbridge, Matthew N., Newsham, Irene, Wu, Yuan-Qing, Muzny, Donna M., Cheung, Sau Wai, Gibbs, Richard A., Ramocki, Melissa B.
出版 2011Text -
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Xia–Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition 由 Murdock, David R., Jiang, Yunyun, Wangler, Michael, Khayat, Michael M., Sabo, Aniko, Juusola, Jane, McWalter, Kirsty, Schatz, Krista Sondergaard, Gunay-Aygun, Meral, Gibbs, Richard A.
出版 2019Text -
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SIX3 Deletions and Incomplete Penetrance in Families Affected by Holoprosencephaly 由 Stokes, Bethany, Berger, Seth I., Hall, Beth A., Weiss, Karin, Hadley, Donald W., Murdock, David R., Ramanathan, Subhadra, Clark, Robin D., Roessler, Erich, Kruszka, Paul, Muenke, Maximilian
出版 2017Text -
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Harmonizing variant classification for return of results in the All of Us Research Program 由 Harrison, Steven M., Austin‐Tse, Christina A., Kim, Serra, Lebo, Matthew, Leon, Annette, Murdock, David, Radhakrishnan, Aparna, Shirts, Brian H., Steeves, Marcie, Venner, Eric, Gibbs, Richard A., Jarvik, Gail P., Rehm, Heidi L.
出版 2021Text -
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A Novel, De Novo Intronic Variant in POGZ Causes White-Sutton Syndrome 由 Merriweather, Ashanta, Murdock, David R., Rosenfeld, Jill A., Dai, Hongzheng, Ketkar, Shamika, Emrick, Lisa, Nicholas, Sarah, Lewis, Richard A., Bacino, Carlos A., Scott, Daryl A., Lee, Brendan, Sutton, V. Reid, Potocki, Lorraine, Burrage, Lindsay C.
出版 2022Text -
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Exome Sequencing in Children with Clinically Suspected Maturity-Onset Diabetes of the Young (MODY) 由 Tosur, Mustafa, Soler-Alfonso, Claudia, Chan, Katie M, Khayat, Michael M, Jhangiani, Shalini N, Meng, Qingchang, Refaey, Ahmad, Muzny, Donna, Gibbs, Richard A, Murdock, David R, Posey, Jennifer E, Balasubramanyam, Ashok, Redondo, Maria J, Sabo, Aniko
出版 2021Text -
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Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome 由 Carvalho, Claudia M B, Zuccherato, Luciana W, Williams, Christopher L, Neill, Nicholas J, Murdock, David R, Bainbridge, Matthew, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Ip, Wan, Guillerman, Robert Paul, Lupski, James R, Bertuch, Alison A
出版 2014Text -
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The phenotypic spectrum of Xia-Gibbs syndrome 由 Jiang, Yunyun, Wangler, Michael F., McGuire, Amy L., Lupski, James R., Posey, Jennifer E., Khayat, Michael M., Murdock, David R., Sanchez-Pulido, Luis, Ponting, Chris P., Xia, Fan, Hunter, Jill V., Meng, Qingchang, Murugan, Mullai, Gibbs, Richard A.
出版 2018Text