Found: 14
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Lack of Mid1, the Mouse Ortholog of the Opitz Syndrome Gene, Causes Abnormal Development of the Anterior Cerebellar Vermis.
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- Journal of Neuroscience, 2010, v. 30, n. 8, p. 2880, doi. 10.1523/JNEUROSCI.4196-09.2010
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- Article
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 86, doi. 10.3390/ijms21010086
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- Article
PML interacts with Myc, and Myc target gene expression is altered in PML-null fibroblasts.
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- Oncogene, 2005, v. 24, n. 13, p. 2195, doi. 10.1038/sj.onc.1208338
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- Article
VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage.
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- Genes, 2021, v. 12, n. 12, p. 1979, doi. 10.3390/genes12121979
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- Article
miR‐181a/b downregulation: a mutation‐independent therapeutic approach for inherited retinal diseases.
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- EMBO Molecular Medicine, 2022, v. 14, n. 11, p. 1, doi. 10.15252/emmm.202215941
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- Article
miR‐181a/b downregulation exerts a protective action on mitochondrial disease models.
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- EMBO Molecular Medicine, 2019, v. 11, n. 5, p. 1, doi. 10.15252/emmm.201708734
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- Article
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.
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- Genes, 2017, v. 8, n. 10, p. 280, doi. 10.3390/genes8100280
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- Article
Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures.
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- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043799
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- Article
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-16
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- Article
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.
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- 2013
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- Publication type:
- journal article
An atlas of gene expression and gene co-regulation in the human retina.
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- Nucleic Acids Research, 2016, v. 44, n. 12, p. 5773, doi. 10.1093/nar/gkw486
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- Article
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs.
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- Nucleic Acids Research, 2016, v. 44, n. 4, p. 1525, doi. 10.1093/nar/gkw039
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- Article
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-24636-1
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- Article
Preoperative clear fluids fasting times in children: retrospective analysis of actual times and complications after the implementation of 1-h clear fasting.
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- Journal of Anesthesia, Analgesia & Critical Care, 2024, v. 4, n. 1, p. 1, doi. 10.1186/s44158-024-00149-3
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- Article