Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Syndrome and MID1[original query] |
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Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. Human genetics 2003 1 112 (3): 249-54. Winter Jennifer, Lehmann Tanja, Suckow Vanessa, Kijas Zofia, Kulozik Andreas, Kalscheuer Vera, Hamel Ben, Devriendt Koen, Opitz John, Lenzner Steffen, Ropers Hans-Hilger, Schweiger Susa |
Genes causing clefting syndromes as candidates for non-syndromic cleft lip with or without cleft palate: a family-based association study. European journal of oral sciences 2008 Dec 116 (6): 507-11. Scapoli Luca, Martinelli Marcella, Arlotti Marzia, Palmieri Annalisa, Masiero Elena, Pezzetti Furio, Carinci Frances |
Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome. Journal of human genetics 2011 May 56 (5): 348-51. Zhang Xufeng, Chen Yougen, Zhao Shentiang, Markljung Ellen, Nordenskjöld Agne |
Targeted next?generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate. Molecular medicine reports 2019 Mar . Bu Haisong, Liu Lin, Hu Shijun, Tan Zhiping, Zhao Tian |
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies. Frontiers in pediatrics 2020 7 8 310. van de Putte Romy, Dworschak Gabriel C, Brosens Erwin, Reutter Heiko M, Marcelis Carlo L M, Acuna-Hidalgo Rocio, Kurtas Nehir E, Steehouwer Marloes, Dunwoodie Sally L, Schmiedeke Eberhard, Märzheuser Stefanie, Schwarzer Nicole, Brooks Alice S, de Klein Annelies, Sloots Cornelius E J, Tibboel Dick, Brisighelli Giulia, Morandi Anna, Bedeschi Maria F, Bates Michael D, Levitt Marc A, Peña Alberto, de Blaauw Ivo, Roeleveld Nel, Brunner Han G, van Rooij Iris A L M, Hoischen Alexand |
Genetic tests aid in counseling of fetuses with cerebellar vermis defects. Prenatal diagnosis 2020 5 40 (10): 1228-1238. Li Lushan, Fu Fang, Li Ru, Xiao Weiqiang, Yu Qiuxia, Wang Dan, Jing Xiangyi, Zhang Yongning, Yang Xin, Pan Min, Liu Zequn, Liao C |
How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients. European urology 2021 1 79 (4): 507-515. Ea Vuthy, Bergougnoux Anne, Philibert Pascal, Servant-Fauconnet Nadège, Faure Alice, Breaud Jean, Gaspari Laura, Sultan Charles, Paris Françoise, Kalfa Nicol |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
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