Хайлтын үр дүнгүүд - James G. Coldwell
- 2-н 1 - 2 үр дүнгүүдийг харуулж байна
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Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems -н Melissa B. Ramocki, Magdalena Bartnik, Przemysław Szafrański, Katarzyna Kołodziejska, Zhilian Xia, Jaclyn Bravo, G. Steve Miller, Diana L. Rodríguez, Charles A. Williams, Patricia I. Bader, Elżbieta Szczepanik, Tomasz Mazurczak, Dorota Antczak‐Marach, James G. Coldwell, Cigdem I. Akman, Karen McAlmon, Melinda Cohen, James McGrath, Elizabeth Roeder, Jennifer M. Mueller, Sung‐Hae Kang, Carlos A. Bacino, Ankita Patel, Ewa Bocian, Chad A. Shaw, Sau Wai Cheung, Tadeusz Mazurczak, Paweł Stankiewicz
Хэвлэсэн 2010Artigo -
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder -н 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
Хэвлэсэн 2010Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Biology
Epilepsy
Gene
Genetics
Phenotype
Endocrinology
Exon
GLUT1
Glucose Transporter Type 1
Glucose transporter
Glutamate receptor
Haploinsufficiency
Insulin
Intellectual disability
Internal medicine
Ionotropic effect
Loss function
Medicine
Missense mutation
Mutation
Neuroscience
Nonsense mutation
Penetrance
Psychiatry
Receptor
Sanger sequencing