Hakutulokset - McEldrew, Deborah

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results Tekijä Rajagopalan, Ramakrishnan, Gilbert, Melissa A., McEldrew, Deborah A., Nassur, James A., Loomes, Kathleen M., Piccoli, David A., Krantz, Ian D., Conlin, Laura K., Spinner, Nancy B.

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NIPBL(+/−) haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states Tekijä Mills, Jason A., Herrera, Pamela S, Kaur, Maninder, Leo, Lanfranco, McEldrew, Deborah, Tintos-Hernandez, Jesus A, Rajagopalan, Ramakrishnan, Gagne, Alyssa, Zhang, Zhe, Ortiz-Gonzalez, Xilma R., Krantz, Ian D.

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A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1 Tekijä Chen, Ying, Gilbert, Melissa A., Grochowski, Christopher M., McEldrew, Deborah, Llewellyn, Jessica, Waisbourd-Zinman, Orith, Hakonarson, Hakon, Bailey-Wilson, Joan E., Russo, Pierre, Wells, Rebecca G., Loomes, Kathleen M., Spinner, Nancy B., Devoto, Marcella

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Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification Tekijä Gilbert, Melissa A., Bauer, Robert C., Rajagopalan, Ramakrishnan, Grochowski, Christopher M., Chao, Grace, McEldrew, Deborah, Nassur, James A., Rand, Elizabeth B., Krock, Bryan L., Kamath, Binita M., Krantz, Ian D., Piccoli, David A., Loomes, Kathleen M., Spinner, Nancy B.

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