The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients
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Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.Increasing Role of Titin Mutations in Neuromuscular Disorders.Myopathology in congenital myopathies.Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.Congenital myopathies: clinical phenotypes and new diagnostic tools.Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature.Inflammatory myopathy in a patient with collagen VI mutationsVacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD)
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P2860
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 08 June 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
The genetic basis of undiagnos ...... ies: Results from 504 patients
@en
The genetic basis of undiagnos ...... es: Results from 504 patients.
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type
label
The genetic basis of undiagnos ...... ies: Results from 504 patients
@en
The genetic basis of undiagnos ...... es: Results from 504 patients.
@nl
prefLabel
The genetic basis of undiagnos ...... ies: Results from 504 patients
@en
The genetic basis of undiagnos ...... es: Results from 504 patients.
@nl
P2093
P2860
P50
P1433
P1476
The genetic basis of undiagnos ...... ies: Results from 504 patients
@en
P2093
Adele D'Amico
Annalaura Torella
Anni Evilä
Antonio Toscano
Arcomaria Garofalo
Bjarne Udd
Carlo Minetti
Claudio Bruno
Elena Pegoraro
Enzo Ricci
P2860
P356
10.1212/WNL.0000000000002800
P407
P50
P577
2016-06-08T00:00:00Z