Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: SLC9A6[original query] |
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Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations. Pediatric nephrology (Berlin, Germany) 2009 Oct 24 (10): 1967-73. Tosetto Enrica, Addis Maria, Caridi Gianluca, Meloni Cristiana, Emma Francesco, Vergine Gianluca, Stringini Gilda, Papalia Teresa, Barbano Giancarlo, Ghiggeri Gian Marco, Ruggeri Laura, Miglietti Nunzia, D Angelo Angela, Melis Maria Antonietta, Anglani Fran |
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome. European journal of human genetics : EJHG 2009 Nov 17 (11): 1378-80. Fichou Yann, Bahi-Buisson Nadia, Nectoux Juliette, Chelly Jamel, Héron Delphine, Cuisset Laurence, Bienvenu Thier |
Next-generation sequencing in X-linked intellectual disability. European journal of human genetics : EJHG 2015 Feb . Tzschach Andreas, Grasshoff Ute, Beck-Woedl Stefanie, Dufke Claudia, Bauer Claudia, Kehrer Martin, Evers Christina, Moog Ute, Oehl-Jaschkowitz Barbara, Di Donato Nataliya, Maiwald Robert, Jung Christine, Kuechler Alma, Schulz Solveig, Meinecke Peter, Spranger Stephanie, Kohlhase Jürgen, Seidel Jörg, Reif Silke, Rieger Manuela, Riess Angelika, Sturm Marc, Bickmann Julia, Schroeder Christopher, Dufke Andreas, Riess Olaf, Bauer Pet |
Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy. Pediatric neurology 2016 Jul . Segal Eric, Pedro Helio, Valdez-Gonzalez Karen, Parisotto Sarah, Gliksman Felicia, Thompson Stephen, Sabri Jomard, Fertig Ev |
Novel and de novo mutations in pediatric refractory epilepsy. Molecular brain 2018 9 11 (1): 48. Liu Jing, Tong Lili, Song Shuangshuang, Niu Yue, Li Jun, Wu Xiu, Zhang Jie, Zai Clement C, Luo Fang, Wu Jian, Li Haiyin, Wong Albert H C, Sun Ruopeng, Liu Fang, Li Baom |
Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy. Epilepsia open 2018 3 2 (2): 236-243. Fung Cheuk-Wing, Kwong Anna Ka-Yee, Wong Virginia Chun-N |
Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome. Clinical dysmorphology 2020 12 30 (1): 36-38. Yalcintepe Sinem, Gurkan Hak |
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 |
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- Page last updated:Apr 22, 2024
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