Որոնման արդյունքները - Inês Carrilho
- Ցուցադրվում են 1 - 4 արդյունքները 4
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Neurodegeneration associated with genetic defects in phospholipase A <sub>2</sub> Allison Gregory, S. K. Westaway, Ida E. Holm, Paul T. Kotzbauer, P. Hogarth, Scott Sonek, Jason Coryell, Thuy Minh Nguyen, Nardo Nardocci, Giovanna Zorzi, Diana Rodriguez, Isabelle Desguerre, Enrico Bertini, Alessandro Simonati, Barbara Levinson, Cristina Dias, Clara Barbot, Inês Carrilho, Mariline Santos, Ibrahim Malik, Jane Gitschier, S. J. Hayflick
Հրապարակվել է 2008Artigo -
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Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin Laura Vilarinho, Maria Luı́s Cardoso, Paulo Gaspar, Clara Barbot, Luı́sa Azevedo, Luísa Diogo, Maria Lúcia Barbosa Maia dos Santos, Inês Carrilho, Isabel Fineza, Fernando Kok, Rui Chorão, Paulo Alegria, Esmeralda Martins, Julia de Abreu Teixeira, Helena C. Fernandes, Nanda M. Verhoeven, Gajja S. Salomons, Filippo M. Santorelli, Pedro Cabral, António Amorim, C. Jakobs
Հրապարակվել է 2005Artigo -
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder W. G. Leen, Jörg Klepper, Marcel M. Verbeek, Maike Leferink, Tom Hofste, Baziel G.M. van Engelen, Ron A. Wevers, Todd M. Arthur, Nadia Bahi‐Buisson, Diana Ballhausen, Jolita Bekhof, Patrick Van Bogaert, Inês Carrilho, B. Chabrol, Mike Champion, James G. Coldwell, Peter T. Clayton, Elizabeth Donner, Athanasios Evangeliou, Friedrich Ebinger, K Farrell, Rob Forsyth, Christian G E L De Goede, S. Groß, Stephanie Grünewald, Hans Holthausen, Sandeep Jayawant, Katherine Lachlan, Vincent Laugel, Kathleen A. Leppig, Ming Lim, G.M.S. Mancini, Adela Della Marina, Loreto Martorell, Joe McMenamin, Marije Meuwissen, Helen Mundy, Nils‐Otto Nilsson, Axel Panzer, Bwee Tien Poll‐The, C. Rauscher, C. M. R. Rouselle, Inger Sandvig, T Scheffner, E. Sheridan, N. B. Simpson, Peter Sýkora, RJ Tomlinson, J Q Trounce, David Webb, Bernhard Weschke, Hans Scheffer, Michèl A.A.P. Willemsen
Հրապարակվել է 2010Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Biology
Genetics
Gene
Medicine
Mutation
Computational biology
Disease
Endocrinology
Epilepsy
Exon
GLUT1
Glucose Transporter Type 1
Glucose transporter
Insulin
Internal medicine
Linguistics
Missense mutation
Neurodegeneration
Neuroscience
Nonsense mutation
Pathology
Phenotype
Philosophy
Portuguese
Psychiatry
Sanger sequencing