GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular geneticsEpilepsyGenetic epilepsy with febrile seizures plusSeizuresGABRG2geneMutationsAntiepileptic treatmentGenetic epilepsy with febrile seizures plus (GEFS+) is a genetic epilepsy syndrome characterized by a ...
In addition to the Translational research module, G-DOC Plus includes two new modules –Precision medicine and Population genetics modules. To enable use cases in these additional modules, new tools (“Variant Search”, “Explore Medical Images”, “Phenotype Search”), and datasets were added to...
Received: 10 March 2008 / Accepted: 21 May 2008 / Published online: 20 June 2008 Ó The Japan Society of Human Genetics and Springer 2008 Abstract Generalized epilepsy with febrile seizures plus (GEFS+; MIM#604233) is a familial epilepsy syndrome characterized by phenotypic and genetic ...
consults for Roche/Genentech, Amgen, Gilead, Lundbeck, Seattle Genetics, Janssen, AbbVie, TG Therapeutics, and Celgene, and receives honoraria from Seattle Genetics, AbbVie, and TG Therapeutics; H.T. receives honoraria from Roche, BMS, and Servier and serves on advisory committees for Roche ...
. Finally, it is worth recalling a key principle of the Frontiers in Genetics | Statistical Genetics and Methodology September 2013 | Volume 4 | Article... V Carla,Z Silvia - 《Front Genet》 被引量: 6发表: 2013年 Celebrating Ou Uur Creativity; More Than 20 Artists Were Given Awards, Wo...
Median patient age was 70.0 years (range, 49–87), and 8 (17.4%) had high-risk cytogenetics. There were 13 (28.3%) patients eligible, but with no immediate intent, for ASCT; of these, 7 (53.8%) proceeded to mobilization and 6 (46.2%) performed apheresis (median 8.1×106CD34+ cells...
doi:10.1038/ejhg.2015.216Tommaso PatriarchiSonia AmabileElisa FrullantiElisa LanducciCaterina Lo RizzoFrancesca ArianiMario CostaFrancesco OlimpicoJohannes W HellFlora M VaccarinoEuropean Journal of Human Genetics Ejhg
13/15 CR/CRi patients were negative for MRD by MFC and cytogenetics for an MRDneg CR/CRi rate of 72% (49-88%). The 3 patients without CR/CRi had marrow aplasia without MFC evidence of AML at time of study removal. Two underwent allogeneic hematopoietic cell transplantation in aplasia; ...
Zuzana Zemanovágrid.4491.80000 0004 1937 116XCytogenetics, 1st Medical FacultyGeneral Hospital and Charles University Prague Czech RepublicMarta Kalousovágrid.411798.20000 0000 9100 9940Institute of Medical Biochemistry and Laboratory DiagnosticsGeneral Faculty Hospital Prague Czech RepublicAnna Jonáová...
- 《Human Genetics》 被引量: 0发表: 2000年 Iso-butane Prices Fall at Both Hubs as Driving Season Ending Last week natural gas liquid (NGL) prices at both Conway and Mont Belvieu were up, but fell as the work wore on. That downward spiral continued this week and caused NGL prices to ...