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M

Maria Rosaria D'Apice

laboratory of medical genetics
H指数:34
被引数:4,046

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The novel (TCTG)n motif in CNBP expanded alleles: composition, dynamics and genotype–phenotype correlation in Myotonic dystrophy type 2 (DM2)

CNBP扩展等位基因中的新型(TCTG)n基序:组成、动态及在强直性肌营养不良症2型(DM2)中的基因型-表型相关性

2026-04-050
OAAI
Epidemiological and clinical data from the European Lipodystrophy Registry

来自欧洲脂质营养不良登记处的流行病学和临床数据

2025-11-010
OA
Interleukin-6 neutralization ameliorates symptoms in prematurely aged mice
2021-01-0344
OAAI
Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction
CELLS
IF5.2
2020-06-237
OAAI
Long term breeding of the Lmna G609G progeric mouse: Characterization of homozygous and heterozygous models
2020-02-0125
OAAI
European lipodystrophy registry: background and structure
2020-01-1522
OAAI
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy
2015-07-2536
OAAI