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Browsing publications by Dr Marta Bertoli

Newcastle AuthorsTitleYearFull text
Laura Powell
Dr Eric Olinger
Dr Sarah Rice
Miguel Barroso Gil
Ian Wilson
et al.		Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome2021
Dr Laura Yates
Dr Marta Bertoli
Nine newly identified individuals refine the phenotype associated with MYT1L mutations2020
Dr Ana Topf
Dr Katherine Johnson
Adam Bates
Lauren Charlotte Phillips Phillips
Dr Marta Bertoli
et al.		Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness2020
Dr Marta Bertoli
Dr Simon Zwolinski
Dr Rhys Thomas
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency2020
Dr Katherine Johnson
Dr Ana Topf
Dr Marta Bertoli
Lauren Charlotte Phillips Phillips
Dr James Miller
et al.		Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population2019
Dr Marta Bertoli
Autosomal recessive primary microcephaly due to ASPM mutations: An update2018
Dr Katherine Johnson
Dr Marta Bertoli
Lauren Charlotte Phillips Phillips
Dr Ana Topf
Roberto Fernandez-Torron
et al.		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 weakness2018
Dr Marta Bertoli
Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene2018
Dr Marta Bertoli
Dr Chiara Marini Bettolo
Professor Hanns Lochmuller
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.		Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy2018
Lauren Charlotte Phillips Phillips
Dr Katherine Johnson
Dr Marta Bertoli
Professor Hanns Lochmuller
Professor Volker Straub
et al.		A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population2017
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