WebMarta Bertoli, Newcastle Elizabeth J. Bhoj, Philadelphia Philippe M Campeau, Montreal Angus Clarke, Cardiff Katta M Girisha, Manipal Stanislas Lyonnet, Paris Noriko Miyake, Tokyo Shahida Moosa, Tygerberg Shubha Phadke, Lucknow Fabiano de Oliveira Poswar, Porto Alegre Ben Pode-Shakked, Tel-Aviv WebePrints Browsing publications by Dr Marta Bertoli.
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WebCongenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. Mutations in at least 20 genes are known to lead to the onset of these conditions. Four of these, ALG2, ALG14, DPAGT1 and GFPT1, are involved in glycosylation. WebDr Marta Bertoli skeletal genetics@newcastle university skeletal genetics@newcastle university Tag Archives: Dr Marta Bertoli Genomics of Common and Rare Genetic … paroline capricciose by rose
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WebMarta Bertoli [...] Volker Straub LGMD2H is an autosomal recessive form of limb-girdle muscular dystrophy and was first identified through a founder mutation in the reproductively isolated... WebMarta Bertoli, Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom *Correspondence: Angela Peron [email protected] Specialtysection: This article was submitted to Neurogenetics, a section of the journal Frontiers in Neurology Received:01 October 2024 Accepted:09 November 2024 Published:08 December 2024 Citation: … WebMarta Bertoli2 Roberto Colombo9,10 Maja Hempel4 Hartmut Engels1 1 Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany 2 Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK paroline ponte