Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Syndrome and SLC2A1[original query] |
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain : a journal of neurology 2010 Mar 133 (Pt 3): 655-70. Leen Wilhelmina G, Klepper Joerg, Verbeek Marcel M, Leferink Maike, Hofste Tom, van Engelen Baziel G, Wevers Ron A, Arthur Todd, Bahi-Buisson Nadia, Ballhausen Diana, Bekhof Jolita, van Bogaert Patrick, Carrilho Inês, Chabrol Brigitte, Champion Michael P, Coldwell James, Clayton Peter, Donner Elizabeth, Evangeliou Athanasios, Ebinger Friedrich, Farrell Kevin, Forsyth Rob J, de Goede Christian G E L, Gross Stephanie, Grunewald Stephanie, Holthausen Hans, Jayawant Sandeep, Lachlan Katherine, Laugel Vincent, Leppig Kathy, Lim Ming J, Mancini Grazia, Marina Adela Della, Martorell Loreto, McMenamin Joe, Meuwissen Marije E C, Mundy Helen, Nilsson Nils O, Panzer Axel, Poll-The Bwee T, Rauscher Christian, Rouselle Christophe M R, Sandvig Inger, Scheffner Thomas, Sheridan Eamonn, Simpson Neil, Sykora Parol, Tomlinson Richard, Trounce John, Webb David, Weschke Bernhard, Scheffer Hans, Willemsen Michél |
No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3. JIMD reports 2014 12 115-20. Bizec C Le, Nicole S, Panagiotakaki E, Seta N, Vuillaumier-Barrot |
Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies. Seizure 2019 8 71 222-228. Kim Soo Yeon, Jang Se Song, Kim Jong-Il, Kim Hunmin, Hwang Hee, Choi Ji Eun, Chae Jong-Hee, Kim Ki Joong, Lim Byung Ch |
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population. Human genetics 2021 11 141 (1): 81-99. Mir Ali, Almudhry Montaha, Alghamdi Fouad, Albaradie Raidah, Ibrahim Mona, Aldurayhim Fatimah, Alhedaithy Abdullah, Alamr Mushari, Bawazir Maryam, Mohammad Sahar, Abdelhay Salma, Bashir Shahid, Housawi Yous |
Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders. The Journal of molecular diagnostics : JMD 2023 4 . Se Hee Kim, Soon Sung Kwon, Mi Ri Park, Hyeon Ah Lee, Ji Hun Kim, JiHoon Cha, Sangwoo Kim, Seung Tae Baek, Se Hoon Kim, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Ka |
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