Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Abnormalities and CDKL5[original query] |
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Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 2010 Apr 51 (4): 647-54. Mei Davide, Marini Carla, Novara Francesca, Bernardina Bernardo D, Granata Tiziana, Fontana Elena, Parrini Elena, Ferrari Anna R, Murgia Alessandra, Zuffardi Orsetta, Guerrini Ren |
Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations. Gene 2012 Dec . Das DK, Raha S, Sanghavi D, Maitra A, Udani V |
Thyroid function in Rett syndrome. Hormone research in paediatrics 2015 83 (2): 118-25. Stagi Stefano, Cavalli Loredana, Congiu Laura, Scusa Maria Flora, Ferlini Alessandra, Bigoni Stefania, Benincasa Alberto, Rossi Bruno, Pini Giorg |
Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome. Orphanet journal of rare diseases 2016 11 (1): 39. Mangatt Meghana, Wong Kingsley, Anderson Barbara, Epstein Amy, Hodgetts Stuart, Leonard Helen, Downs Jen |
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- Page last updated:Apr 22, 2024
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