Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Syndrome and GPR98[original query] |
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| Targeted next generation sequencing for molecular diagnosis of Usher syndrome. Orphanet journal of rare diseases 2014 9 168. Aparisi María J, Aller Elena, Fuster-García Carla, García-García Gema, Rodrigo Regina, Vázquez-Manrique Rafael P, Blanco-Kelly Fiona, Ayuso Carmen, Roux Anne-Françoise, Jaijo Teresa, Millán José |
| Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet journal of rare diseases 2015 10 (1): 110. Jiang Lichun, Liang Xiaofang, Li Yumei, Wang Jing, Zaneveld Jacques Eric, Wang Hui, Xu Shan, Wang Keqing, Wang Binbin, Chen Rui, Sui Ruifa |
| ADGRV1 is implicated in myoclonic epilepsy. Epilepsia 2017 Dec . Myers Kenneth A, Nasioulas Steven, Boys Amber, McMahon Jacinta M, Slater Howard, Lockhart Paul, Sart Desirée du, Scheffer Ingrid |
| Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV. International journal of pediatric otorhinolaryngology 2017 11 102 114-118. Wang Xueling, Lin Xiao-Jiang, Tang Xiangrong, Chai Yong-Chuan, Yu De-Hong, Chen Dong-Ye, Wu H |
| Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circulation. Cardiovascular genetics 2017 Oct 10 (5): . Guo Tingwei, Repetto Gabriela M, McDonald McGinn Donna M, Chung Jonathan H, Nomaru Hiroko, Campbell Christopher L, Blonska Anna, Bassett Anne S, Chow Eva W C, Mlynarski Elisabeth E, Swillen Ann, Vermeesch Joris, Devriendt Koen, Gothelf Doron, Carmel Miri, Michaelovsky Elena, Schneider Maude, Eliez Stephan, Antonarakis Stylianos E, Coleman Karlene, Tomita-Mitchell Aoy, Mitchell Michael E, Digilio M Cristina, Dallapiccola Bruno, Marino Bruno, Philip Nicole, Busa Tiffany, Kushan-Wells Leila, Bearden Carrie E, Piotrowicz Ma?gorzata, Hawu?a Wanda, Roberts Amy E, Tassone Flora, Simon Tony J, van Duin Esther D A, van Amelsvoort Thérèse A, Kates Wendy R, Zackai Elaine, Johnston H Richard, Cutler David J, Agopian A J, Goldmuntz Elizabeth, Mitchell Laura E, Wang Tao, Emanuel Beverly S, Morrow Bernice E, |
| Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237. Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya |
| The Genetics of Usher Syndrome in the Israeli and Palestinian Populations. Investigative ophthalmology & visual science 2018 3 59 (2): 1095-1104. Khalaileh Ayat, Abu-Diab Alaa, Ben-Yosef Tamar, Raas-Rothschild Annick, Lerer Israela, Alswaiti Yahya, Chowers Itay, Banin Eyal, Sharon Dror, Khateb Sam |
| Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes. Genes 2022 8 13 (8): . Feenstra Helena M, Al-Khuzaei Saoud, Shah Mital, Broadgate Suzanne, Shanks Morag, Kamath Archith, Yu Jing, Jolly Jasleen K, MacLaren Robert E, Clouston Penny, Halford Stephanie, Downes Susan |
- Page last reviewed:Feb 1, 2024
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