Results
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321.
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Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France? [electronic resource] by
- Frédéric, M Y
- Clot, F
- Cif, L
- Blanchard, A
- Dürr, A
- Vuillaume, I
- Lesca, G
- Kreisler, A
- Davin, C
- Besnard, T
- Rousset, F
- Thorel, D
- Saquet, C
- Mechin, D
- Ozelius, L
- Agid, Y
- Barroso, B
- Chabrol, B
- Chan, V
- Clanet, M
- Coubes, C
- Destee, A
- Nguyen, K
- Vial, C
- Vidailhet, M
- Xie, J
- Sablonniere, B
- Calender, A
- Brice, A
- Roubertie, A
- Coubes, P
- Claustres, M
- Tuffery-Giraud, S
- Collod-Beroud, G
Producer: 20090615
In:
Neurogenetics vol. 9
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322.
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Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. [electronic resource] by
- Wang, Gang
- McCain, Megan L
- Yang, Luhan
- He, Aibin
- Pasqualini, Francesco Silvio
- Agarwal, Ashutosh
- Yuan, Hongyan
- Jiang, Dawei
- Zhang, Donghui
- Zangi, Lior
- Geva, Judith
- Roberts, Amy E
- Ma, Qing
- Ding, Jian
- Chen, Jinghai
- Wang, Da-Zhi
- Li, Kai
- Wang, Jiwu
- Wanders, Ronald J A
- Kulik, Wim
- Vaz, Frédéric M
- Laflamme, Michael A
- Murry, Charles E
- Chien, Kenneth R
- Kelley, Richard I
- Church, George M
- Parker, Kevin Kit
- Pu, William T
Producer: 20140923
In:
Nature medicine vol. 20
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323.
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The molecular basis of breast cancer pathological phenotypes. [electronic resource] by
- Heng, Yujing J
- Lester, Susan C
- Tse, Gary Mk
- Factor, Rachel E
- Allison, Kimberly H
- Collins, Laura C
- Chen, Yunn-Yi
- Jensen, Kristin C
- Johnson, Nicole B
- Jeong, Jong Cheol
- Punjabi, Rahi
- Shin, Sandra J
- Singh, Kamaljeet
- Krings, Gregor
- Eberhard, David A
- Tan, Puay Hoon
- Korski, Konstanty
- Waldman, Frederic M
- Gutman, David A
- Sanders, Melinda
- Reis-Filho, Jorge S
- Flanagan, Sydney R
- Gendoo, Deena Ma
- Chen, Gregory M
- Haibe-Kains, Benjamin
- Ciriello, Giovanni
- Hoadley, Katherine A
- Perou, Charles M
- Beck, Andrew H
Producer: 20170516
In:
The Journal of pathology vol. 241
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324.
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CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. [electronic resource] by
- Wortmann, Saskia B
- Ziętkiewicz, Szymon
- Kousi, Maria
- Szklarczyk, Radek
- Haack, Tobias B
- Gersting, Søren W
- Muntau, Ania C
- Rakovic, Aleksandar
- Renkema, G Herma
- Rodenburg, Richard J
- Strom, Tim M
- Meitinger, Thomas
- Rubio-Gozalbo, M Estela
- Chrusciel, Elzbieta
- Distelmaier, Felix
- Golzio, Christelle
- Jansen, Joop H
- van Karnebeek, Clara
- Lillquist, Yolanda
- Lücke, Thomas
- Õunap, Katrin
- Zordania, Riina
- Yaplito-Lee, Joy
- van Bokhoven, Hans
- Spelbrink, Johannes N
- Vaz, Frédéric M
- Pras-Raves, Mia
- Ploski, Rafal
- Pronicka, Ewa
- Klein, Christine
- Willemsen, Michel A A P
- de Brouwer, Arjan P M
- Prokisch, Holger
- Katsanis, Nicholas
- Wevers, Ron A
Producer: 20150409
In:
American journal of human genetics vol. 96
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325.
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Applying physical science techniques and CERN technology to an unsolved problem in radiation treatment for cancer: the multidisciplinary 'VoxTox' research programme. [electronic resource] by
- Burnet, Neil G
- Scaife, Jessica E
- Romanchikova, Marina
- Thomas, Simon J
- Bates, Amy M
- Wong, Emma
- Noble, David J
- Shelley, Leila Ea
- Bond, Simon J
- Forman, Julia R
- Hoole, Andrew Cf
- Barnett, Gillian C
- Brochu, Frederic M
- Simmons, Michael Pd
- Jena, Raj
- Harrison, Karl
- Yeap, Ping Lin
- Drew, Amelia
- Silvester, Emma
- Elwood, Patrick
- Pullen, Hannah
- Sultana, Andrew
- Seah, Shannon Yk
- Wilson, Megan Z
- Russell, Simon G
- Benson, Richard J
- Rimmer, Yvonne L
- Jefferies, Sarah J
- Taku, Nicolette
- Gurnell, Mark
- Powlson, Andrew S
- Schönlieb, Carola-Bibiane
- Cai, Xiaohao
- Sutcliffe, Michael Pf
- Parker, Michael A
Publication details: CERN ideaSquare journal of experimental innovation Jun 2017
In:
CERN ideaSquare journal of experimental innovation vol. 1
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326.
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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. [electronic resource] by
- Wortmann, Saskia B
- Vaz, Frédéric M
- Gardeitchik, Thatjana
- Vissers, Lisenka E L M
- Renkema, G Herma
- Schuurs-Hoeijmakers, Janneke H M
- Kulik, Wim
- Lammens, Martin
- Christin, Christin
- Kluijtmans, Leo A J
- Rodenburg, Richard J
- Nijtmans, Leo G J
- Grünewald, Anne
- Klein, Christine
- Gerhold, Joachim M
- Kozicz, Tamas
- van Hasselt, Peter M
- Harakalova, Magdalena
- Kloosterman, Wigard
- Barić, Ivo
- Pronicka, Ewa
- Ucar, Sema Kalkan
- Naess, Karin
- Singhal, Kapil K
- Krumina, Zita
- Gilissen, Christian
- van Bokhoven, Hans
- Veltman, Joris A
- Smeitink, Jan A M
- Lefeber, Dirk J
- Spelbrink, Johannes N
- Wevers, Ron A
- Morava, Eva
- de Brouwer, Arjan P M
Producer: 20121105
In:
Nature genetics vol. 44
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327.
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A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. [electronic resource] by
- Celestino-Soper, Patrícia B S
- Violante, Sara
- Crawford, Emily L
- Luo, Rui
- Lionel, Anath C
- Delaby, Elsa
- Cai, Guiqing
- Sadikovic, Bekim
- Lee, Kwanghyuk
- Lo, Charlene
- Gao, Kun
- Person, Richard E
- Moss, Timothy J
- German, Jennifer R
- Huang, Ni
- Shinawi, Marwan
- Treadwell-Deering, Diane
- Szatmari, Peter
- Roberts, Wendy
- Fernandez, Bridget
- Schroer, Richard J
- Stevenson, Roger E
- Buxbaum, Joseph D
- Betancur, Catalina
- Scherer, Stephen W
- Sanders, Stephan J
- Geschwind, Daniel H
- Sutcliffe, James S
- Hurles, Matthew E
- Wanders, Ronald J A
- Shaw, Chad A
- Leal, Suzanne M
- Cook, Edwin H
- Goin-Kochel, Robin P
- Vaz, Frédéric M
- Beaudet, Arthur L
Producer: 20120802
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 109
Availability: No items available.
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