Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: CRADD[original query] |
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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Apr . Di Donato Nataliya, Timms Andrew E, Aldinger Kimberly A, Mirzaa Ghayda M, Bennett James T, Collins Sarah, Olds Carissa, Mei Davide, Chiari Sara, Carvill Gemma, Myers Candace T, Rivière Jean-Baptiste, Zaki Maha S, , Gleeson Joseph G, Rump Andreas, Conti Valerio, Parrini Elena, Ross M Elizabeth, Ledbetter David H, Guerrini Renzo, Dobyns William |
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. European journal of human genetics : EJHG 2019 3 27 (8): 1235-1243. Polla Daniel L, Rahikkala Elisa, Bode Michaela K, Määttä Tuomo, Varilo Teppo, Loman Thyrza, Philips Anju K, Kurki Mitja, Palotie Aarno, Körkkö Jarmo, Vieira Päivi, Avela Kristiina, Jacquemin Valérie, Pirson Isabelle, Abramowicz Marc, de Brouwer Arjan P M, Kuismin Outi, van Bokhoven Hans, Järvelä Ir |
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland. Nature communications 2019 1 10 (1): 410. Kurki Mitja I, Saarentaus Elmo, Pietiläinen Olli, Gormley Padhraig, Lal Dennis, Kerminen Sini, Torniainen-Holm Minna, Hämäläinen Eija, Rahikkala Elisa, Keski-Filppula Riikka, Rauhala Merja, Korpi-Heikkilä Satu, Komulainen-Ebrahim Jonna, Helander Heli, Vieira Päivi, Männikkö Minna, Peltonen Markku, Havulinna Aki S, Salomaa Veikko, Pirinen Matti, Suvisaari Jaana, Moilanen Jukka S, Körkkö Jarmo, Kuismin Outi, Daly Mark J, Palotie Aar |
Cardiac Imaging of Aortic Valve Area From 34 287 UK Biobank Participants Reveals Novel Genetic Associations and Shared Genetic Comorbidity With Multiple Disease Phenotypes.
Circulation. Genomic and precision medicine 2020 10 13 (6): e003014. Córdova-Palomera Aldo, Tcheandjieu Catherine, Fries Jason A, Varma Paroma, Chen Vincent S, Fiterau Madalina, Xiao Ke, Tejeda Heliodoro, Keavney Bernard D, Cordell Heather J, Tanigawa Yosuke, Venkataraman Guhan, Rivas Manuel A, Ré Christopher, Ashley Euan, Priest James |
Novel genetic variants associated with inhaled corticosteroid treatment response in older adults with asthma.
Thorax 2022 May . Wang Alberta L, Lahousse Lies, Dahlin Amber, Edris Ahmed, McGeachie Michael, Lutz Sharon M, Sordillo Joanne E, Brusselle Guy, Lasky-Su Jessica, Weiss Scott T, Iribarren Carlos, Lu Meng X, Tantisira Kelan G, Wu Ann |
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