Результаты поиска - Jones, Marilyn

Pocket Atlas of Cytology and Microscopic Anatomy по Jones, Marilyn M.

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Histological Atlas of the Laboratory Mouse по Jones, Marilyn M.

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MOBILIZING LINGUISTIC AND SEMIOTIC RESOURCES, CONSTRUCTING IDENTITIES IN LOCAL LIFE WORLDS: MIGRANT WORKERS FROM TIMOR-LESTE AND THEIR FOOTBALL CLUBS по Cabral, Estêvão, Martin-Jones, Marilyn

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Effects of Ribonucleosides on Thymidine Incorporation: Selective Reversal of the Inhibition of Deoxyribonucleic Acid Synthesis in Thymineless Auxotrophs of Escherichia coli по Boyle, James V., Jones, Marilyn E.

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Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases по Bick, David, Jones, Marilyn, Taylor, Stacie L, Taft, Ryan J, Belmont, John

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Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy по Bai, Shaochun, Lozada, Anthony, Jones, Marilyn C., Dietz, Harry C., Dempsey, Melissa, Das, Soma

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Impact of Cell-Free Fetal DNA Screening on Patients’ Choice of Invasive Procedures after a Positive California Prenatal Screen Result по Shah, Forum T., Steinhaus French, Kathryn, Osann, Kathryn E., Bocian, Maureen, Jones, Marilyn C., Korty, Lauren

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INFLUENZA VACCINATION IN HEALTHCARE WORKERS: 10-YEAR EXPERIENCE OF A LARGE HEALTHCARE ORGANIZATION по Ajenjo, M. Cristina, Woeltje, Keith F., Babcock, Hilary M., Gemeinhart, Nancy, Jones, Marilyn, Fraser, Victoria J.

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Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum по Lenberg, Jerica L., Pretorius, Dolores H., Rupe, Eric S., Jones, Marilyn C., Ramos, Gladys A., Andreasen, Tara S.

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Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder по Jones, Marilyn C., Topol, Sarah E., Rueda, Manuel, Oliveira, Glenn, Phillips, Tierney, Spencer, Emily G., Torkamani, Ali

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Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis по Sanford, Erica, Jones, Marilyn C., Brigger, Matthew, Hammer, Monia, Giudugli, Lucia, Kingsmore, Stephen F., Dimmock, David, Bainbridge, Matthew N.

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The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragm... по Sweeney, Nathaly M., Nahas, Shareef A., Chowdhury, Shimul, Campo, Miguel Del, Jones, Marilyn C., Dimmock, David P., Kingsmore, Stephen F.

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Gastrointestinal disorders in Curry–Jones syndrome: Clinical and molecular insights from an affected newborn по Wigby, Kristen, Twigg, Stephen R. F., Broderick, Ryan, Davenport, Katherine P., Wilkie, Andrew O. M., Bickler, Stephen W., Jones, Marilyn C.

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Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor по Tootleman, Eva, Malamut, Barbara, Akshoomoff, Natacha, Mattson, Sarah N., Hoffman, Hal M., Jones, Marilyn C., Printz, Beth, Shiryaev, Sergey A., Grossfeld, Paul

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Mapping quantitative trait loci (QTL) in sheep. I. A new male framework linkage map and QTL for growth rate and body weight по Raadsma, Herman W, Thomson, Peter C, Zenger, Kyall R, Cavanagh, Colin, Lam, Mary K, Jonas, Elisabeth, Jones, Marilyn, Attard, Gina, Palmer, David, Nicholas, Frank W

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Extending the Mutation Spectrum for Galloway–Mowat Syndrome to Include Homozygous Missense Mutations in the WDR73 Gene по Rosti, Rasim O., Dikoglu, Esra, Zaki, Maha S., Abdel-Salam, Ghada, Makhseed, Nawal, Sese, Jordan C., Musaev, Damir, Rosti, Basak, Harbert, Mary J., Jones, Marilyn C., Vaux, Keith K., Gleeson, Joseph G.

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Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay по Weiss, Karin, Wigby, Kristen, Fannemel, Madeleine, Henderson, Lindsay B, Beck, Natalie, Ghali, Neeti, Study, D D D, Anderlid, Britt-Marie, Lundin, Johanna, Hamosh, Ada, Jones, Marilyn C, Ghedia, Sondhya, Muenke, Maximilian, Kruszka, Paul

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Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements по Sahoo, Trilochan, Wang, Jia-Chi, Elnaggar, Mohamed M, Sanchez-Lara, Pedro, Ross, Leslie P, Mahon, Loretta W, Hafezi, Katayoun, Deming, Abigail, Hinman, Lynne, Bruno, Yovana, Bartley, James A, Liehr, Thomas, Anguiano, Arturo, Jones, Marilyn

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X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3 по Sun, Jia-Hui, Chen, Jiang, Ayala Valenzuela, Fernando Eduardo, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Romero, Leslie Patron, Rinaldi, Berardo, Li, Wenhui Laura, Li, Qing-Qing, Wu, Dan, Gerard, Benedicte, Thorpe, Erin, Bayat, Allan, Shi, Yun Stone

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Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature по Au, P. Y. Billie, Goedhart, Caitlin, Ferguson, Marcia, Breckpot, Jeroen, Devriendt, Koenraad, Wierenga, Klaas, Fanning, Elizabeth, Grange, Dorothy K., Graham, Gail E., Galarreta, Carolina, Jones, Marilyn C., Kini, Usha, Stewart, Helen, Parboosingh, Jillian S., Kline, Antonie D., Innes, A. Micheil

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