Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: ISPD[original query] |
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ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. BMC neurology 2015 15 (1): 172. Magri Francesca, Colombo Irene, Del Bo Roberto, Previtali Stefano, Brusa Roberta, Ciscato Patrizia, Scarlato Marina, Ronchi Dario, D'Angelo Maria Grazia, Corti Stefania, Moggio Maurizio, Bresolin Nereo, Comi Giacomo Piet |
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. Clinical genetics 2016 May . Fattahi Zohreh, Kalhor Zahra, Fadaee Mahsa, Vazehan Raheleh, Parsimehr Elham, Abolhassani Ayda, Beheshtian Maryam, Zamani Gholamreza, Nafissi Shahriar, Nilipour Yalda, Akbari Mohammad R, Kahrizi Kimia, Kariminejad Ariana, Najmabadi Hosse |
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skeletal muscle 2018 8 8 (1): 23. Johnson Katherine, Bertoli Marta, Phillips Lauren, Töpf Ana, Van den Bergh Peter, Vissing John, Witting Nanna, Nafissi Shahriar, Jamal-Omidi Shirin, ?usakowska Anna, Kostera-Pruszczyk Anna, Potulska-Chromik Anna, Deconinck Nicolas, Wallgren-Pettersson Carina, Strang-Karlsson Sonja, Colomer Jaume, Claeys Kristl G, De Ridder Willem, Baets Jonathan, von der Hagen Maja, Fernández-Torrón Roberto, Zulaica Ijurco Miren, Espinal Valencia Juan Bautista, Hahn Andreas, Durmus Hacer, Willis Tracey, Xu Liwen, Valkanas Elise, Mullen Thomas E, Lek Monkol, MacArthur Daniel G, Straub Volk |
Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing. Clinica chimica acta; international journal of clinical chemistry 2020 8 510 599-604. Tan Hu, Xie Yinong, Chen Fei, Chen Min, Yu Li, Chen Dunjin, Chen Jing |
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients. Clinical genetics 2020 11 99 (3): 384-395. Song Danyu, Dai Yi, Chen Xiaoyu, Fu Xiaona, Chang Xingzhi, Wang Ning, Zhang Cheng, Yan Chuanzhu, Zheng Hong, Wu Liwen, Jiang Li, Hua Ying, Yang Haipo, Wang Zhiqiang, Dai Tingjun, Zhu Wenhua, Han Chunxi, Yuan Yun, Kobayashi Kazuhiro, Toda Tatsushi, Xiong H |
Broad spectrum of phenotype and genotype in Korean ?-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center. Neuromuscular disorders : NMD 2023 4 33 (5): 425-431. Young Jun Ko, Anna Cho, Woo Joong Kim, Soo Yeon Kim, Byung Chan Lim, Hunmin Kim, Hee Hwang, Ji Eun Choi, Ki Joong Kim, Jong-Hee Ch |
Fetal and neonatal outcomes of posterior fossa anomalies: a retrospective cohort study. Scientific reports 2024 4 14 (1): 8411. Hanan Alsehli, Saeed Mastour Alshahrani, Shatha Alzahrani, Farouq Ababneh, Nawal Mashni Alharbi, Nassebah Alarfaj, Duaa Baarm |
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- Page last updated:Apr 22, 2024
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