Resultados da busca - Eirik Frengen

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  1. 1
    A Core MYC Gene Expression Signature Is Prominent in Basal-Like Breast Cancer but Only Partially Overlaps the Core Serum Response

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

    Publicado em 2009
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  2. 2
    Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions

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

    Publicado em 2014
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  3. 3
    A Dominant STIM1 Mutation Causes Stormorken Syndrome

    A Dominant STIM1 Mutation Causes Stormorken Syndrome por Doriana Misceo, Asbjørn Holmgren, William E. Louch, Pål André Holme, Masahiro Mizobuchi, Raúl Juntas Morales, A. Maues de Paula, Asbjørg Stray‐Pedersen, Robert Lyle, Bjørn Dalhus, Geir Christensen, Helge Stormorken, Geir E. Tjønnfjord, Eirik Frengen

    Publicado em 2014
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  4. 4
    Imaging Tumor-Stroma Interactions during Chemotherapy Reveals Contributions of the Microenvironment to Resistance

    Imaging Tumor-Stroma Interactions during Chemotherapy Reveals Contributions of the Microenvironment to Resistance por Elizabeth S. Nakasone, Hanne A. Askautrud, Tim Kees, Jae‐Hyun Park, Vicki Plaks, Andrew J. Ewald, Miriam R. Fein, Morten G. Rasch, Ying-Xim Tan, Jing Qiu, Juwon Park, Pranay Sinha, Mina J. Bissell, Eirik Frengen, Zena Werb, Mikala Egeblad

    Publicado em 2012
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  5. 5
    A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

    A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform por Tuva Barøy, Janet Koster, Petter Strømme, Merel S. Ebberink, Doriana Misceo, Sacha Ferdinandusse, Asbjørn Holmgren, Timothy Hughes, Else Merckoll, Jostein Westvik, Berit Woldseth, John H. Walter, Nicholas Wood, Bjørn Tvedt, Kristine Stadskleiv, Ronald J. A. Wanders, Hans R. Waterham, Eirik Frengen

    Publicado em 2015
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  6. 6
    Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration

    Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration por Petter Strømme, Stefan Groeneweg, Elaine C. Souza, Chantal Zevenbergen, Anette Torgersbråten, Asbjørn Holmgren, Ebrar Gurcan, Marcel E. Meima, Robin P. Peeters, W. Edward Visser, Linda Høneren Johansson, Almira Babovic, Henrik Zetterberg, Heike Heuer, Eirik Frengen, Doriana Misceo, Theo J. Visser

    Publicado em 2018
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  7. 7
    Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy

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

    Publicado em 2018
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  8. 8
    Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

    Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay por Muhammad Ansar, Saima Riazuddin, Muhammad Tahir Sarwar, Periklis Makrythanasis, Sohail Aziz Paracha, Zafar Iqbal, Jamshed Khan, Muhammad Zaman Khan Assir, Mureed Hussain, Attia Razzaq, D.L. Polla, Abid Sohail Taj, Asbjørn Holmgren, Naila Batool, Doriana Misceo, Justyna Iwaszkiewicz, Arjan P.M. de Brouwer, Michel Guipponi, Sylviane Hanquinet, Vincent Zoete, Federico Santoni, Eirik Frengen, Jawad Ahmed, Sheikh Riazuddin, Hans van Bokhoven, Stylianos E. Antonarakis

    Publicado em 2017
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  9. 9
    Delineating the <i>GRIN1</i> phenotypic spectrum

    Delineating the <i>GRIN1</i> phenotypic spectrum por Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig, Henrike Heyne, Hannah M. Schutz, Julia Hentschel, Carolina Courage, Christel Depienne, Caroline Nava, Delphine Héron, Rikke S. Møller, Helle Hjalgrim, Dennis Lal, Bernd A. Neubauer, Peter Nürnberg, Hölger Thiele, Gerhard Kurlemann, Georgianne L. Arnold, Vikas Bhambhani, Deborah Bartholdi, Christeen Ramane J. Pedurupillay, Doriana Misceo, Eirik Frengen, Petter Strømme, Dennis Dlugos, Emily S Doherty, Emilia K. Bijlsma, Claudia Ruivenkamp, Mariëtte J.V. Hoffer, Amy B. Goldstein, Deepa Rajan, Vinodh Narayanan, Keri Ramsey, Newell Belnap, Isabelle Schrauwen, Ryan Richholt, Bobby P.C. Koeleman, Joaquim Sá, Carla Mendonça, Carolien G. F. de Kovel, Sarah Weckhuysen, Katia Hardies, Peter De Jonghe, Linda De Meırleır, Mathieu Milh, Catherine Badens, Marine Lebrun, Tiffany Busa, Christine Francannet, Amélie Piton, Erik Riesch, Saskia Biskup, Heinrich Vogt, Thomas Dorn, Ingo Helbig, Jacques L. Michaud, Bodo Laube, Steffen Syrbe

    Publicado em 2016
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  10. 10
    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

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

    Publicado em 2017
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  11. 11
    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects por Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike Heyne, Katherine L. Helbig, Sha Tang, Marcia Willing, Brad T. Tinkle, Darius J. Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M. Strom, Heather C. Mefford, Candace T. Myers, Alison M. Muir, Amy Lacroix, Lynette G. Sadleir, Ingrid E. Scheffer, Eva H. Brilstra, Mieke M. van Haelst, Jasper J. van der Smagt, Levinus A. Bok, Rikke S. Møller, Uffe Birk Jensen, J Gordon Millichap, Anne T. Berg, Ethan M. Goldberg, Isabelle De Bie, Stéphanie Fox, Philippe Major, Julie R. Jones, Elaine H. Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J. Leventer, John A. Lawson, Tony Roscioli, Floor E. Jansen, Emmanuelle Ranza, Christian Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Andrew R. Smith, Christine M. Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen‐Hann Tan, Mark A. Tarnopolsky, Lauren Brady, Markus Wolff, Lutz Dondit, Hélio Pedro, Sarah Parisotto, Kelly L. Jones, Anup D. Patel, David Neal Franz, Rena Vanzo, Elysa Marco, Judith D. Ranells, Nataliya Di Donato, William B. Dobyns, Bodo Laube, Stephen F. Traynelis, Johannes R. Lemke

    Publicado em 2017
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  12. 12
    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals por Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas O’Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gülsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yılmaz, Seda Kanmaz, Hepsen Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhaş, Tamison Jewett, Rachel Goldberg, Hanan E. Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gözde Yeşil, Esma Şengenç, Serhat Güler, Mariam Hull, Mered Parnes, Dilek Aktaş, Banu Anlar, Yavuz Bayram, Davut Pehli̇van, Jennifer E. Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama AlAbdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André EX Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto

    Publicado em 2022
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  13. 13
    Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy

    Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy por Benjamin Cogné, Xénia Latypova, Lokuliyanage Dona Samudita Senaratne, Ludovic Martin, Daniel C. Koboldt, Georgios Kellaris, Lorraine Fievet, Guylène Le Meur, D. Caldari, Dominique Debray, Mathilde Nizon, Eirik Frengen, Sara J. Bowne, Elizabeth L. Cadena, Stephen P. Daiger, Kinga M. Bujakowska, Eric A. Pierce, Michael B. Gorin, Nicholas Katsanis, Stéphane Bézieau, Simon M. Petersen‐Jones, Laurence M. Occelli, Leslie A. Lyons, Laurence Legeai‐Mallet, Lori S. Sullivan, Erica E. Davis, Bertrand Isidor, Reuben M. Buckley, Danielle Aberdein, Paulo C. Alves, Gregory S. Barsh, Rebecca R. Bellone, Tomas F. Bergström, Adam R. Boyko, Jeffrey A. Brockman, Margret L. Casal, Marta G. Castelhano, O. Distl, Nicholas H. Dodman, N. Matthew Ellinwood, Jonathan E. Fogle, Oliver P. Forman, Dorian J. Garrick, Edward I. Ginns, Jens Häggström, Victoria L. Harvey, Daisuke Hasegawa, Bianca Haase, Chris R. Helps, Isabel Hernández, Marjo K. Hytönen, Maria Kaukonen, Christopher B. Kaelin, Tomoki Kosho, Emilie Leclerc, T.L. Lear, Tosso Leeb, Ronald H. L. Li, Hannes Lohi, M. Longeri, Mark A. Magnuson, Richard Malík, Shrinivasrao P. Mane, John S. Munday, William J. Murphy, Niels C. Pedersen, Max F. Rothschild, Clare Rusbridge, Beth Shapiro, Joshua A. Stern, William F. Swanson, Karen A. Terio, Rory J. Todhunter, Wesley C. Warren, Elizabeth A. Wilcox, Julia H Wildschutte, Yoshihiko Yu

    Publicado em 2020
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  14. 14
    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders por Chelsea Lowther, Mana M. Mehrjouy, Ryan L. Collins, Mads Bak, Olga Dudchenko, Harrison Brand, Zirui Dong, Malene Bøgehus Rasmussen, Huiya Gu, David Weisz, Lusine Nazaryan‐Petersen, Amanda S. Fjorder, Yuan Mang, Allan Lind-Thomsen, Juan M. M. Mendez, Xabier Calle, Anuja Chopra, Claus Hansen, Merete Bugge, Roeland Broekema, Teppo Varilo, Tiia Maria Luukkonen, J.J.M. Engelen, Angela Maria Vianna‐Morgante, Ana Carolina Fonseca, Juliana F. Mazzeu, Halinna Dornelles-Wawruk, Kikue Terada Abe, Joris Vermeesch, Kris Van Den Bogaert, Carolina Sismani, Constantia Aristidou, Paola Evangelidou, Albert Schinzel, Damien Sanlaville, Caroline Schluth–Bolard, Vera M. Kalscheuer, Maren Wenzel, Hyung‐Goo Kim, Katrin Õunap, Laura Roht, Susanna Midyan, María Clara Bonaglia, Anna Lindstrand, Jesper Eisfeldt, Jesper Ottosson, Daniel Nilsson, Maria Pettersson, Elenice Ferreira Bastos, Evica Rajcan‐Separovic, Fatma Sılan, Frenny Sheth, Antonio Novelli, Eirik Frengen, Madeleine Fannemel, Petter Strømme, Nadja Kokalj Vokač, Cornelia Daumer‐Haas, Danilo Moretti‐Ferreira, Deise Helena de Souza, María A. Ramos‐Arroyo, Maria M. Igoa, Lyudmila Angelova, Peter M. Kroisel, Graciela del Rey, Társis Paiva Vieira, M. E. Suzanne Lewis, Hao Wang, Jana Drabova, Markéta Havlovičová, Miroslava Hančárová, Zdeněk Sedláček, Ida Vogel, Tina Duelund Hjortshøj, Rikke S. Møller, Zeynep Tümer, Christina Fagerberg, Lilian Bomme Ousager, Bitten Schönewolf‐Greulich, Mathilde Lauridsen, Juliette Piard, Céline Pebrel‐Richard, Sylvie Jaillard, Nadja Ehmke, Eunice G. Stefanou, Czakó Marta, Kosztolányi György, Ashwin Dalal, Usha R. Dutta, Rashmi Shukla, Fortunato Lonardo, Orsetta Zuffardi, Gunnar Houge, Doriana Misceo, Shahid Mahmood Baig, Alina T. Midro, Natalia Wawrusiewicz‐Kurylonek, Isabel M. Carreira, Joana Barbosa Melo, Laura Rodriguez Martinez

    Publicado em 2022
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