Výsledky vyhledávání - Frengen, Eirik

Regulated expression of a transgene introduced on an oriP/EBNA-1 PAC shuttle vector into human cells Autor Askautrud, Hanne A, Gjernes, Elisabet, Størvold, Gro L, Lindeberg, Mona M, Thorsen, Jim, Prydz, Hans, Frengen, Eirik

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A Bacterial Artificial Chromosome Library for Sequencing the Complete Human Genome Autor Osoegawa, Kazutoyo, Mammoser, Aaron G., Wu, Chenyan, Frengen, Eirik, Zeng, Changjiang, Catanese, Joseph J., de Jong, Pieter J.

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A highly redundant BAC library of Atlantic salmon (Salmo salar): an important tool for salmon projects Autor Thorsen, Jim, Zhu, Baoli, Frengen, Eirik, Osoegawa, Kazutoyo, de Jong, Pieter J, Koop, Ben F, Davidson, William S, Høyheim, Bjørn

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A Core MYC Gene Expression Signature Is Prominent in Basal-Like Breast Cancer but Only Partially Overlaps the Core Serum Response Autor Chandriani, Sanjay, Frengen, Eirik, Cowling, Victoria H., Pendergrass, Sarah A., Perou, Charles M., Whitfield, Michael L., Cole, Michael D.

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Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan Autor Pedurupillay, Christeen Ramane J., Landsend, Erlend Christoffer Sommer, Vigeland, Magnus Dehli, Ansar, Muhammad, Frengen, Eirik, Misceo, Doriana, Strømme, Petter

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A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms Autor Hladilkova, Eva, Barøy, Tuva, Fannemel, Madeleine, Vallova, Vladimira, Misceo, Doriana, Bryn, Vesna, Slamova, Iva, Prasilova, Sarka, Kuglik, Petr, Frengen, Eirik

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Bacterial Artificial Chromosome Libraries for Mouse Sequencing and Functional Analysis Autor Osoegawa, Kazutoyo, Tateno, Minako, Woon, Peng Yeong, Frengen, Eirik, Mammoser, Aaron G., Catanese, Joseph J., Hayashizaki, Yoshihide, de Jong, Pieter J.

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Global Gene Expression Analysis Reveals a Link between NDRG1 and Vesicle Transport Autor Askautrud, Hanne A., Gjernes, Elisabet, Gunnes, Gjermund, Sletten, Marit, Ross, Douglas T., Børresen-Dale, Anne Lise, Iversen, Nina, Tranulis, Michael A., Frengen, Eirik

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Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype Autor Skauli, Nadia, Wallace, Sean, Chiang, Samuel C. C., Barøy, Tuva, Holmgren, Asbjørn, Stray-Pedersen, Asbjørg, Bryceson, Yenan T., Strømme, Petter, Frengen, Eirik, Misceo, Doriana

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Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report Autor Sumathipala, Dulika, Strømme, Petter, Gilissen, Christian, Einarsen, Ingunn Holm, Bjørndalen, Hilde J., Server, Andrés, Corominas, Jordi, Hassel, Bjørnar, Fannemel, Madeleine, Misceo, Doriana, Frengen, Eirik

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Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions Autor Wedding, Iselin Marie, Koht, Jeanette, Tran, Gia Tuong, Misceo, Doriana, Selmer, Kaja Kristine, Holmgren, Asbjørn, Frengen, Eirik, Bindoff, Laurence, Tallaksen, Chantal M. E., Tzoulis, Charalampos

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Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability Autor Barøy, Tuva, Misceo, Doriana, Strømme, Petter, Stray-Pedersen, Asbjørg, Holmgren, Asbjørn, Rødningen, Olaug Kristin, Blomhoff, Anne, Helle, Johan Robert, Stormyr, Alice, Tvedt, Bjørn, Fannemel, Madeleine, Frengen, Eirik

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Imaging tumor-stroma interactions during chemotherapy reveals contributions of the microenvironment to resistance Autor Nakasone, Elizabeth S., Askautrud, Hanne A., Kees, Tim, Park, Jae-Hyun, Plaks, Vicki, Ewald, Andrew J., Fein, Miriam, Rasch, Morten G., Tan, Ying-Xim, Qiu, Jing, Park, Juwon, Sinha, Pranay, Bissell, Mina J., Frengen, Eirik, Werb, Zena, Egeblad, Mikala

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STIM1 R304W causes muscle degeneration and impaired platelet activation in mice Autor Gamage, Thilini H., Gunnes, Gjermund, Lee, Robert Hugh, Louch, William Edward, Holmgren, Asbjørn, Bruton, Joseph D., Lengle, Emma, Kolstad, Terje R. Selnes, Revold, Tobias, Amundsen, Silja Svanstrøm, Dalen, Knut Tomas, Holme, Pål Andre, Tjønnfjord, Geir Erland, Christensen, Geir, Westerblad, Håkan, Klungland, Arne, Bergmeier, Wolfgang, Misceo, Doriana, Frengen, Eirik

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ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences Autor Sumathipala, Dulika, Strømme, Petter, Fattahi, Zohreh, Lüders, Torben, Sheng, Ying, Kahrizi, Kimia, Einarsen, Ingunn Holm, Sloan, Jennifer L, Najmabadi, Hossein, van den Heuvel, Lambert, Wevers, Ron A, Guerrero-Castillo, Sergio, Mørkrid, Lars, Valayannopoulos, Vassili, Backe, Paul Hoff, Venditti, Charles P, van Karnebeek, Clara D, Nilsen, Hilde, Frengen, Eirik, Misceo, Doriana

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Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy Autor Kotlarz, Daniel, Marquardt, Benjamin, Barøy, Tuva, Lee, Way S., Konnikova, Liza, Hollizeck, Sebastian, Magg, Thomas, Lehle, Anna S., Walz, Christoph, Borggraefe, Ingo, Hauck, Fabian, Bufler, Philip, Conca, Raffaele, Wall, Sarah M., Schumacher, Eva M., Misceo, Doriana, Frengen, Eirik, Bentsen, Beint S., Uhlig, Holm H., Hopfner, Karl-Peter, Muise, Aleixo M., Snapper, Scott B., Strømme, Petter, Klein, Christoph

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Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness Autor Slavotinek, Anne, Misceo, Doriana, Htun, Stephanie, Mathisen, Linda, Frengen, Eirik, Foreman, Michelle, Hurtig, Jennifer E, Enyenihi, Liz, Sterrett, Maria C, Leung, Sara W, Schneidman-Duhovny, Dina, Estrada-Veras, Juvianee, Duncan, Jacque L, Haaxma, Charlotte A, Kamsteeg, Erik-Jan, Xia, Vivian, Beleford, Daniah, Si, Yue, Douglas, Ganka, Treidene, Hans Einar, van Hoof, Ambro, Fasken, Milo B, Corbett, Anita H

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Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome Autor Epting, Daniel, Senaratne, Lokuliyange D. S., Ott, Elisabeth, Holmgren, Asbjørn, Sumathipala, Dulika, Larsen, Selma M., Wallmeier, Julia, Bracht, Diana, Frikstad, Kari‐Anne M., Crowley, Suzanne, Sikiric, Alma, Barøy, Tuva, Käsmann‐Kellner, Barbara, Decker, Eva, Decker, Christian, Bachmann, Nadine, Patzke, Sebastian, Phelps, Ian G., Katsanis, Nicholas, Giles, Rachel, Schmidts, Miriam, Zucknick, Manuela, Lienkamp, Soeren S., Omran, Heymut, Davis, Erica E., Doherty, Dan, Strømme, Petter, Frengen, Eirik, Bergmann, Carsten, Misceo, Doriana

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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy Autor Cogné, Benjamin, Latypova, Xenia, Senaratne, Lokuliyanage Dona Samudita, Martin, Ludovic, Koboldt, Daniel C., Kellaris, Georgios, Fievet, Lorraine, Le Meur, Guylène, Caldari, Dominique, Debray, Dominique, Nizon, Mathilde, Frengen, Eirik, Bowne, Sara J., Cadena, Elizabeth L., Daiger, Stephen P., Bujakowska, Kinga M., Pierce, Eric A., Gorin, Michael, Katsanis, Nicholas, Bézieau, Stéphane, Petersen-Jones, Simon M., Occelli, Laurence M., Lyons, Leslie A., Legeai-Mallet, Laurence, Sullivan, Lori S., Davis, Erica E., Isidor, Bertrand

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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction Autor Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J., Stromme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjaergaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zöe, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.

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