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النتائج لكل صفحة: 10

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Collection : University Of Zurich (Uzh)

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Academic Journal

Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient

Authors : Mihaylova, Violeta; Chablais, Fabian; Herenger, Yvan

Subjects: Clinic for Neurology; 610 Medicine & health

Source: Mihaylova, Violeta; Chablais, Fabian; Herenger, Yvan; Spiegel, Roland; Heinrich Jung, Hans (2020). Novel truncating mutations of MYO18B causing congenital

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Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy

Authors : Martin, Florence; Kana, Veronika; Mori, Andrea Capone

Subjects: Medical Clinic; Institute of Neuropathology; 570 Life sciences

Source: Martin, Florence; Kana, Veronika; Mori, Andrea Capone; Fischer, Dirk; Parkin, Nicolas; Boltshauser, Eugen; Rushing, Elisabeth Jane; Klein, Andrea (2014). Neurofibromatosis type 1 (NF1) with an

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Progressive scoliosis in central core disease

Authors : Mertz, Kirsten D; Jost, Bernhard; Glatzel, Markus

Subjects: 610 Medicine & health142-005

Source: Mertz, Kirsten D; Jost, Bernhard; Glatzel, Markus; Min, Kan (2005). Progressive scoliosis in central core disease. European Spine Journal, 14(9):900-905.

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