Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Disease and DOCK8[original query] |
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| Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders. Genome medicine 2017 Nov 9 (1): 106. Glessner Joseph T, Li Jin, Wang Dai, March Michael, Lima Leandro, Desai Akshatha, Hadley Dexter, Kao Charlly, Gur Raquel E, Cohen Nadine, Sleiman Patrick M A, Li Qingqin, Hakonarson Hakon, |
| The first cohort of Iranian patients with hyper immunoglobulin E syndrome: A long-term follow-up and genetic analysis. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2019 2 30 (4): 469-478. Tavassoli Mahmood, Abolhassani Hassan, Yazdani Reza, Ghadami Mohsen, Azizi Gholamreza, Abdolrahim Poor Heravi Sina, Moeini Shad Tannaz, Kokabee Mostafa, Movahedi Masoud, Abdshahzadeh Hormoz, Gharagozlou Mohammad, Rezaei Nima, Esmaeilzadeh Hossein, Aleyasin Soheila, Aghamohammadi Asgh |
| MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism. PeerJ 2019 6 e6183. Capkova Pavlina, Srovnal Josef, Capkova Zuzana, Staffova Katerina, Becvarova Vera, Trkova Marie, Adamova Katerina, Santava Alena, Curtisova Vaclava, Hajduch Marian, Prochazka Mart |
| Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center. Gastroenterology 2020 2 158 (8): 2208-2220. Crowley Eileen, Warner Neil, Pan Jie, Khalouei Sam, Elkadri Abdul, Fiedler Karoline, Foong Justin, Turinsky Andrei L, Bronte-Tinkew Dana, Zhang Shiqi, Hu Jamie, Tian David, Li Dalin, Horowitz Julie, Siddiqui Iram, Upton Julia, Roifman Chaim M, Church Peter C, Wall Donna A, Ramani Arun K, Kotlarz Daniel, Klein Christoph, Uhlig Holm, Snapper Scott B, Gonzaga-Jauregui Claudia, Paterson Andrew D, McGovern Dermot P B, Brudno Michael, Walters Thomas D, Griffiths Anne M, Muise Aleixo |
| Association of DOCK8, IL17RA, and KLK12 Polymorphisms with Atopic Dermatitis in Koreans. Annals of dermatology 2020 Jun 32 (3): 197-205. Heo Won Il, Park Kui Young, Lee Mi-Kyung, Bae Yu Jeong, Moon Nam Ju, Seo Seong J |
| Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia. PloS one 2021 16 (1): e0245362. Boujemaa Maroua, Hamdi Yosr, Mejri Nesrine, Romdhane Lilia, Ghedira Kais, Bouaziz Hanen, El Benna Houda, Labidi Soumaya, Dallali Hamza, Jaidane Olfa, Ben Nasr Sonia, Haddaoui Abderrazek, Rahal Khaled, Abdelhak Sonia, Boussen Hamouda, Boubaker Mohamed Sam |
| Gene-Smoking Interaction Analysis for the Identification of Novel Asthma-Associated Genetic Factors. International journal of molecular sciences 2023 8 24 (15): . Junho Cha, Sungkyoung Ch |
| The Autoimmune Manifestations in Patients with Genetic Defects in the B Cell Development and Differentiation Stages. Journal of clinical immunology 2023 2 . Azizi Gholamreza, Hesari Mina Fattah, Sharifinejad Niusha, Fayyaz Farimah, Chavoshzadeh Zahra, Mahdaviani Seyed Alireza, Alan Mahnaz Seifi, Jamee Mahnaz, Tavakol Marzieh, Sadri Homa, Shahrestanaki Ehsan, Nabavi Mohammad, Ebrahimi Sareh Sadat, Shirkani Afshin, Vosughi Motlagh Ahmad, Delavari Samaneh, Rasouli Seyed Erfan, Esmaeili Marzie, Salami Fereshte, Yazdani Reza, Rezaei Nima, Abolhassani Hass |
| DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved. International journal of molecular sciences 2023 12 24 (24): . Natalya Risinskaya, Maria Gladysheva, Abdulpatakh Abdulpatakhov, Yulia Chabaeva, Valeriya Surimova, Olga Aleshina, Anna Yushkova, Olga Dubova, Nikolay Kapranov, Irina Galtseva, Sergey Kulikov, Tatiana Obukhova, Andrey Sudarikov, Elena Parovichniko |
| Increased frequency of CHEK2 germline pathogenic variants among individuals with dermatofibrosarcoma protuberans. Genetics in medicine open 2024 12 2 101895. Michael R Sargen, Jung Kim, Jeremy S Haley, Hayley P Barker, Piyushkumar A Mundra, Mandy L Ballinger, David M Thomas, David J Carey, Alisa M Goldstein, Douglas R Stewa |
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