Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: TUBA1A[original query] |
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Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. Clinical genetics 2008 Nov 74 (5): 425-33. Morris-Rosendahl D J, Najm J, Lachmeijer A M A, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap M S, Schuierer G, Kutsche K, Uyanik |
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 |
Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development. Pediatric neurology 2019 9 103 27-34. Lee Sangbo, Kim Se Hee, Kim Borahm, Lee Seung-Tae, Choi Jong Rak, Kim Heung Dong, Lee Joon Soo, Kang Hoon-Ch |
Targeted resequencing identifies genes with recurrent variation in cerebral palsy. NPJ genomic medicine 2019 4 27. van Eyk C L, Corbett M A, Frank M S B, Webber D L, Newman M, Berry J G, Harper K, Haines B P, McMichael G, Woenig J A, MacLennan A H, Gecz |
Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development Turkish journal of medical sciences 2020 Jul . Aksel KiliÇarslan Özge, Ataman Esra, GÜrsoy Semra, GÜrbÜz GÜrkan, Ünalp Aycan, GenÇpinar Pinar, OlgaÇ DÜndar NIhal, EdIzer SelvInaz, Ülgenalp Ayfer, GIray Bozkaya Özl |
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations. Seizure 2020 6 80 145-152. Accogli Andrea, Severino Mariasavina, Riva Antonella, Madia Francesca, Balagura Ganna, Iacomino Michele, Carlini Barbara, Baldassari Simona, Giacomini Thea, Croci Carolina, Pisciotta Livia, Messana Tullio, Boni Antonella, Russo Angelo, Bilo Leonilda, Tonziello Rosa, Coppola Antonietta, Filla Alessandro, Mecarelli Oriano, Casalone Rosario, Pisani Francesco, Falsaperla Raffaele, Marino Silvia, Parisi Pasquale, Ferretti Alessandro, Elia Maurizio, Luchetti Anna, Milani Donatella, Vanadia Francesca, Silvestri Laura, Rebessi Erika, Parente Eliana, Vatti Giampaolo, Mancardi Maria Margherita, Nobili Lino, Capra Valeria, Salpietro Vincenzo, Striano Pasquale, Zara Federi |
Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing. NPJ genomic medicine 2022 May 7 (1): 31. Yang Ying, Zhao Sheng, Sun Guoqiang, Chen Fang, Zhang Tongda, Song Jieping, Yang Wenzhong, Wang Lin, Zhan Nianji, Yang Xiaohong, Zhu Xia, Rao Bin, Yin Zhenzhen, Zhou Jing, Yan Haisheng, Huang Yushan, Ye Jingyu, Huang Hui, Cheng Chen, Zhu Shida, Guo Jian, Xu Xun, Chen Xinl |
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. Orphanet journal of rare diseases 2023 5 18 (1): 101. Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockma |
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