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Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 6, p. 992, doi. 10.1002/mdc3.13740
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- Article
Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-03925-1
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- Publication type:
- Article
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 168, doi. 10.1186/s13023-014-0168-7
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- Publication type:
- Article
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8289, doi. 10.3390/ijms23158289
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- Article
Usher Syndrome: Genetics of a Human Ciliopathy.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 6723, doi. 10.3390/ijms22136723
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- Article
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1597, doi. 10.1002/ajmg.a.37003
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- Article
Efficacy and Safety of Celiac Plexus Neurolysis in the Treatment of Chronic Pain Secondary to Oncological Pathology of the Upper Hemiabdomen: A Systematic Review and Meta-Analysis.
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- Indian Journal of Palliative Care, 2023, v. 29, n. 4, p. 394, doi. 10.25259/IJPC_203_2022
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- Article
Analysis of the <i>Ush2a</i> Gene in Medaka Fish (<i>Oryzias latipes</i>).
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074995
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- Publication type:
- Article
Changes in lipid metabolism driven by steroid signalling modulate proteostasis in C. elegans.
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- EMBO Reports, 2023, v. 24, n. 6, p. 1, doi. 10.15252/embr.202255556
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- Publication type:
- Article
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
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- Human Genetics, 2009, v. 125, n. 1, p. 29, doi. 10.1007/s00439-008-0598-1
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- Publication type:
- Article
Reply to Townsend et al.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 7, doi. 10.1038/ejhg.2013.95
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- Publication type:
- Article
Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1054, doi. 10.1038/ejhg.2012.297
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- Article
The USH2A c.2299delG mutation: dating its common origin in a Southern European population.
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- European Journal of Human Genetics, 2010, v. 18, n. 7, p. 788, doi. 10.1038/ejhg.2010.14
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- Publication type:
- Article
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.
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- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 407, doi. 10.1038/sj.ejhg.5201138
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- Article
Primary hepatocellular adenoma in men.
- Published in:
- 1989
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- Publication type:
- journal article
Differential efficacy with epidural blood and fibrin patches for the treatment of post‐dural puncture headache.
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- Pain Practice, 2024, v. 24, n. 3, p. 440, doi. 10.1111/papr.13318
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- Article
Clinical Aspects of Usher Syndrome and the USH2A Gene in a Cohort of 433 Patients.
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- JAMA Ophthalmology, 2015, v. 133, n. 2, p. 157, doi. 10.1001/jamaophthalmol.2014.4498
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- Article
Genetic Screening of the Usher Syndrome in Cuba.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00501
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- Article
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
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- Molecular Vision, 2020, v. 26, p. 216
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- Article
El cribado neonatal en el futuro de niños con atrofia muscular espinal.
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- Revista Cubana de Neurología y Neurocirugía, 2021, v. 11, n. 2, p. 1
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- Article
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
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- Clinical Genetics, 2022, v. 101, n. 5/6, p. 481, doi. 10.1111/cge.14113
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- Article
Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
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- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 8, p. 922, doi. 10.1111/aos.14795
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- Publication type:
- Article
Introduction and clinical aspects in Usher syndromes.
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- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.8097
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- Publication type:
- Article
Parietal intradiploic encephalocele: Report of a case and review of the literature.
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- Neuroradiology Journal, 2015, v. 28, n. 3, p. 264, doi. 10.1177/1971400915592554
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- Article
STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.
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- Movement Disorders, 2024, v. 39, n. 9, p. 1641, doi. 10.1002/mds.29910
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- Publication type:
- Article
Adalimumab Reduces Photoreceptor Cell Death in A Mouse Model of Retinal Degeneration.
- Published in:
- Scientific Reports, 2015, p. 11764, doi. 10.1038/srep11764
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- Article
Genetic Testing for Rare Diseases.
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- 2022
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- Publication type:
- Editorial
Correlation of Genotype and Perinatal Period, Time of Diagnosis and Anthropometric Data before Commencement of Recombinant Human Growth Hormone Treatment in Polish Patients with Prader–Willi Syndrome.
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- Diagnostics (2075-4418), 2021, v. 11, n. 5, p. 798, doi. 10.3390/diagnostics11050798
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- Publication type:
- Article
A Novel Ferroptosis-Associated Gene Signature to Predict Prognosis in Patients with Uveal Melanoma.
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- Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 219, doi. 10.3390/diagnostics11020219
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- Publication type:
- Article
USH2A -Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies.
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- Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 213, doi. 10.3390/diagnostics11020213
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- Publication type:
- Article
Infliximab reduces Zaprinast-induced retinal degeneration in cultures of porcine retina.
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- Journal of Neuroinflammation, 2014, v. 11, n. 1, p. 1, doi. 10.1186/s12974-014-0172-9
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- Publication type:
- Article
Infliximab reduces Zaprinast-induced retinal degeneration in cultures of porcine retina.
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- 2014
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- Publication type:
- journal article
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
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- Human Mutation, 2011, v. 32, n. 6, p. 610, doi. 10.1002/humu.21480
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- Article
Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.
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- Human Mutation, 2005, v. 25, n. 5, p. 453, doi. 10.1002/humu.20167
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- Publication type:
- Article
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35085-0
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- Publication type:
- Article
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1352063
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- Publication type:
- Article
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients.
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- Genes, 2021, v. 12, n. 2, p. 282, doi. 10.3390/genes12020282
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- Publication type:
- Article
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
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- Genes, 2020, v. 11, n. 12, p. 1467, doi. 10.3390/genes11121467
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- Publication type:
- Article
Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.
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- Genes, 2020, v. 11, n. 5, p. 473, doi. 10.3390/genes11050473
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- Publication type:
- Article
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
- Published in:
- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199048
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- Publication type:
- Article
The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease.
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- Clinical Chemistry & Laboratory Medicine, 2018, v. 56, n. 2, p. 229, doi. 10.1515/cclm-2017-0226
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- Publication type:
- Article