Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Abnormalities and TSC2[original query] |
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Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation. Medical science monitor : international medical journal of experimental and clinical research 2005 May 11 (5): CR230-234. Rok Paulina, Kasprzyk-Obara Jolanta, Doma?ska-Pakie?a Dorota, Jó?wiak Sergiu |
Genotype and brain pathology phenotype in children with tuberous sclerosis complex. European journal of human genetics : EJHG 2016 Jul . Overwater Iris E, Swenker Rob, van der Ende Emma L, Hanemaayer Kimberley Bm, Hoogeveen-Westerveld Marianne, van Eeghen Agnies M, Lequin Maarten H, van den Ouweland Ans Mw, Moll Henriëtte A, Nellist Mark, de Wit Marie-Claire |
Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy. Pediatric neurology 2016 Jul . Segal Eric, Pedro Helio, Valdez-Gonzalez Karen, Parisotto Sarah, Gliksman Felicia, Thompson Stephen, Sabri Jomard, Fertig Ev |
Targetable Alterations in Adult Patients With Soft-Tissue Sarcomas: Insights for Personalized Therapy. JAMA oncology 2018 May . Lucchesi Carlo, Khalifa Emmanuel, Laizet Yec'han, Soubeyran Isabelle, Mathoulin-Pelissier Simone, Chomienne Christine, Italiano Antoi |
Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma. The journal of pathology. Clinical research 2018 4 4 (3): 167-174. Bah Ismaël, Fahiminiya Somayyeh, Bégin Louis R, Hamel Nancy, D'Agostino Maria D, Tanguay Simon, Foulkes William |
Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background. Italian journal of pediatrics 2020 3 46 (1): 36. Savini M N, Mingarelli A, Peron A, La Briola F, Cervi F, Alfano R M, Canevini M P, Vignoli |
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study. Brain : a journal of neurology 2021 6 144 (12): 3623-3634. Zou Dongfang, Wang Lin, Liao Jianxiang, Xiao Hongdou, Duan Jing, Zhang Tongda, Li Jianbiao, Yin Zhenzhen, Zhou Jing, Yan Haisheng, Huang Yushan, Zhan Nianji, Yang Ying, Ye Jingyu, Chen Fang, Zhu Shida, Wen Feiqiu, Guo Ji |
Genetic profile of primary plasma cell leukemia in Korea: comparison with plasma cell myeloma. Leukemia & lymphoma 2021 10 63 (2): 385-394. Lee Youngeun, Yun Jiwon, Jeong Dajeong, Ryu Sohee, Kwon Seok Ryun, Yun Hongseok, Kim Sung Min, Park Jae Hyeon, Lee Dong So |
Sleep Duration in Mouse Models of Neurodevelopmental Disorders. Brain sciences 2021 1 11 (1): . Saré Rachel Michelle, Lemons Abigail, Song Alex, Smith Carolyn Bee |
The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort. BMC medicine 2022 4 20 (1): 123. Robinson Jessica, Uzun Orhan, Loh Ne Ron, Harris Isabelle Rose, Woolley Thomas E, Harwood Adrian J, Gardner Jennifer Frances, Syed Yasir Ahm |
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex. International journal of molecular sciences 2022 10 23 (19): . Togi Sumihito, Ura Hiroki, Hatanaka Hisayo, Niida |
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- Page last updated:Apr 16, 2024
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