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  • 1-10 ل  21 نتائج ل ""MESH: Muscular Diseases""

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Academic Journal

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

Subjects: Inter-individual variability; Deep phenotyping; Next generation sequencing

  • Source: ISSN: 2073-4425 ; Genes ; https://hal.science/hal-03314914 ; Genes, 2021, 12 (8), pp.1199. ⟨10.3390/genes12081199⟩.

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Academic Journal

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

Subjects: Inter-individual variability; Deep phenotyping; Next generation sequencing

  • Source: ISSN: 2073-4425 ; Genes ; https://hal.science/hal-03314914 ; Genes, 2021, 12 (8), pp.1199. ⟨10.3390/genes12081199⟩.

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Academic Journal

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

Subjects: Inter-individual variability; Deep phenotyping; Next generation sequencing

  • Source: ISSN: 2073-4425 ; Genes ; https://hal.science/hal-03314914 ; Genes, 2021, 12 (8), pp.1199. ⟨10.3390/genes12081199⟩.

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Academic Journal

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

Subjects: Inter-individual variability; Deep phenotyping; Next generation sequencing

  • Source: ISSN: 2073-4425 ; Genes ; https://hal.science/hal-03314914 ; Genes, 2021, 12 (8), pp.1199. ⟨10.3390/genes12081199⟩.

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Academic Journal

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

Subjects: Inter-individual variability; Deep phenotyping; Next generation sequencing

  • Source: ISSN: 2073-4425 ; Genes ; https://hal.science/hal-03314914 ; Genes, 2021, 12 (8), pp.1199. ⟨10.3390/genes12081199⟩.

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Academic Journal

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

Subjects: Inter-individual variability; Deep phenotyping; Next generation sequencing

  • Source: ISSN: 2073-4425 ; Genes ; https://hal.science/hal-03314914 ; Genes, 2021, 12 (8), pp.1199. ⟨10.3390/genes12081199⟩.

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Academic Journal

Anti-mitochondrial M2 Antibodies and Myopathy

Subjects: arrhythmias; anti-mitochondrial antibodies; autoimmune

  • Source: ISSN: 0918-2918.

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Academic Journal

Anti-mitochondrial M2 Antibodies and Myopathy

Subjects: arrhythmias; cardiac involvement; myopathy

  • Source: ISSN: 0918-2918.

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Academic Journal

219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016

Subjects: MESH: Congresses as Topic; MESH: Connectin; MESH: Humans

  • Source: ISSN: 0960-8966 ; Neuromuscular Disorders ; https://hal.science/hal-02333059 ; Neuromuscular Disorders, 2017, 27 (4), pp.396-407. ⟨10.1016/j.nmd.2017.01.009⟩.

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Academic Journal

219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016

Subjects: MESH: Congresses as Topic; MESH: Connectin; MESH: Humans

  • Source: ISSN: 0960-8966 ; Neuromuscular Disorders ; https://hal.science/hal-02333059 ; Neuromuscular Disorders, 2017, 27 (4), pp.396-407. ⟨10.1016/j.nmd.2017.01.009⟩.

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  • 1-10 ل  21 نتائج ل ""MESH: Muscular Diseases""