Found: 23
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Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.743230
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- Publication type:
- Article
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.668094
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- Publication type:
- Article
The empowerment of translational research: lessons from laminopathies.
- Published in:
- 2012
- By:
- Publication type:
- Letter
The empowerment of translational research: lessons from laminopathies.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 37, doi. 10.1186/1750-1172-7-37
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- Publication type:
- Article
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene.
- Published in:
- DNA & Cell Biology, 2018, v. 37, n. 12, p. 1061, doi. 10.1089/dna.2018.4335
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- Publication type:
- Article
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0224-0
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- Publication type:
- Article
Atypical progeroid syndrome due to heterozygous missense LMNA mutations.
- Published in:
- 2009
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- Publication type:
- journal article
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.
- Published in:
- 2007
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- Publication type:
- journal article
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.80229
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- Publication type:
- Article
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.
- Published in:
- Acta Dermato-Venereologica, 2019, v. 99, n. 12, p. 1192, doi. 10.2340/00015555-3291
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- Publication type:
- Article
Carrier frequency of CFTR variants in the non‐Caucasian populations by genome aggregation database (gnomAD)‐based analysis.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 6, p. 463, doi. 10.1111/ahg.12396
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- Publication type:
- Article
Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome.
- Published in:
- Acta Myologica, 2020, v. 39, n. 4, p. 320, doi. 10.36185/2532-1900-036
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- Publication type:
- Article
Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family.
- Published in:
- Acta Myologica, 2020, v. 39, n. 1, p. 13, doi. 10.36185/2532-1900-002
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- Publication type:
- Article
European lipodystrophy registry: background and structure.
- Published in:
- 2020
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- Publication type:
- journal article
Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients.
- Published in:
- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00279-z
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- Publication type:
- Article
Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 6, p. 1532, doi. 10.3390/cells9061532
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- Publication type:
- Article
Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 12, p. 981, doi. 10.1002/pd.1058
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- Publication type:
- Article
A Pilot Beta-Thalassaemia Screening Program in the Albanian Population for a Health Planning Program.
- Published in:
- Acta Haematologica, 2009, v. 121, n. 4, p. 234, doi. 10.1159/000226423
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- Publication type:
- Article
Workload measurement for molecular genetics laboratory: A survey study.
- Published in:
- PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0206855
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- Publication type:
- Article
In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5′ and 3′ Ends of the CTG Array.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 12, p. 10129, doi. 10.3390/ijms241210129
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- Publication type:
- Article
Interleukin‐6 neutralization ameliorates symptoms in prematurely aged mice.
- Published in:
- Aging Cell, 2021, v. 20, n. 1, p. 1, doi. 10.1111/acel.13285
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- Publication type:
- Article
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0164-3
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- Publication type:
- Article
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
- Published in:
- BMC Medical Genetics, 2004, v. 5, p. 8, doi. 10.1186/1471-2350-5-8
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- Publication type:
- Article