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Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 6, p. 992, doi. 10.1002/mdc3.13740
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- Article
Hereditary Spastic Paraplegia 7 Presenting as Multifocal Dystonia with Prominent Cranio‐Cervical Involvement.
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- Movement Disorders Clinical Practice, 2021, v. 8, n. 6, p. 966, doi. 10.1002/mdc3.13257
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- Article
Epilepsy, status epilepticus, and hemiplegic migraine coexisting with a novel SLC4A4 mutation.
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- Neurological Sciences, 2021, v. 42, n. 9, p. 3647, doi. 10.1007/s10072-020-04961-x
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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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- Article
Modeling a Novel Variant of Glycogenosis IXa Using a Clonal Inducible Reprogramming System to Generate "Diseased" Hepatocytes for Accurate Diagnosis.
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- Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1111, doi. 10.3390/jpm12071111
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- 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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- Article
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
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- 2011
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- journal 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
Altered Antioxidant-Oxidant Status in the Aqueous Humor and Peripheral Blood of Patients with Retinitis Pigmentosa.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074223
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- Publication type:
- Article
Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells.
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- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057506
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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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- 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
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.
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- Brain: A Journal of Neurology, 2008, v. 131, n. 11, p. 3051, doi. 10.1093/brain/awn228
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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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- Publication type:
- Article
Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome.
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- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.625591
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- Article
STAT1 Gain-of-Function and Hidradenitis Suppurativa Successfully Managed with Baricitinib.
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- Journal of Clinical Immunology, 2023, v. 43, n. 5, p. 898, doi. 10.1007/s10875-023-01454-2
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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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- Article
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome.
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- Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.721047
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- Article
A Genetic Basis for Mechanosensory Traits in Humans.
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- PLoS Biology, 2012, v. 10, n. 5, p. 1, doi. 10.1371/journal.pbio.1001318
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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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- Article
Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia?
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- Diagnostics (2075-4418), 2022, v. 12, n. 1, p. 129, doi. 10.3390/diagnostics12010129
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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.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35085-0
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- 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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- 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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- 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