Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Syndrome and PURA[original query] |
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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. Journal of medical genetics 2017 11 55 (2): 104-113. Reijnders Margot R F, Janowski Robert, Alvi Mohsan, Self Jay E, van Essen Ton J, Vreeburg Maaike, Rouhl Rob P W, Stevens Servi J C, Stegmann Alexander P A, Schieving Jolanda, Pfundt Rolph, van Dijk Katinke, Smeets Eric, Stumpel Connie T R M, Bok Levinus A, Cobben Jan Maarten, Engelen Marc, Mansour Sahar, Whiteford Margo, Chandler Kate E, Douzgou Sofia, Cooper Nicola S, Tan Ene-Choo, Foo Roger, Lai Angeline H M, Rankin Julia, Green Andrew, Lönnqvist Tuula, Isohanni Pirjo, Williams Shelley, Ruhoy Ilene, Carvalho Karen S, Dowling James J, Lev Dorit L, Sterbova Katalin, Lassuthova Petra, Neupauerová Jana, Waugh Jeff L, Keros Sotirios, Clayton-Smith Jill, Smithson Sarah F, Brunner Han G, van Hoeckel Ceciel, Anderson Mel, Clowes Virginia E, Siu Victoria Mok, Ddd Study The, Selber Paulo, Leventer Richard J, Nellaker Christoffer, Niessing Dierk, Hunt David, Baralle Dia |
Expanding the neurodevelopmental phenotype of PURA syndrome. American journal of medical genetics. Part A 2017 11 176 (1): 56-67. Lee Bo Hoon, Reijnders Margot R F, Abubakare Oluwatobi, Tuttle Emily, Lape Brynn, Minks Kelly Q, Stodgell Christopher, Bennetto Loisa, Kwon Jennifer, Fong Chin-To, Gripp Karen W, Marsh Eric D, Smith Wendy E, Huq Ahm M, Coury Stephanie A, Tan Wen-Hann, Solis Orestes, Mehta Rupal I, Leventer Richard J, Baralle Diana, Hunt David, Paciorkowski Alex |
A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations. European journal of human genetics : EJHG 2022 11 31 (1): 112-121. Dai Weiqian, Sun Yu, Fan Yanjie, Gao Yan, Zhan Yongkun, Wang Lili, Xiao Bing, Qiu Wenjuan, Gu Xuefan, Sun Kun, Yu Yongguo, Xu |
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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