Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 3 (of 3 Records) |
Query Trace: Ullrich Congenital Muscular Dystrophy[original query] |
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"Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies. Chinese medical journal 0 129 (15): 1811-1816. Fu Jun, Zheng Yi-Ming, Jin Su-Qin, Yi Jun-Fei, Liu Xiu-Juan, Lyn He, Wang Zhao-Xia, Zhang Wei, Xiao Jiang-Xi, Yuan Y |
Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey. Annals of Indian Academy of Neurology 2021 11 24 (4): 547-551. Kutluk Muhammet G, Kadem Naz, Bektas Omer, Randa Nadide C, Tuncer Gökcen O, Albayrak Pelin, Eminoglu Tuba, Teber Serap |
Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center. Frontiers in genetics 2023 12 14 1242277. Victor Morel, Frédérique Audic, Charlotte Tardy, Annie Verschueren, Shahram Attarian, Karine Nguyen, Emmanuelle Salort-Campana, Martin Krahn, Brigitte Chabrol, Svetlana Gorokho |
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