Found: 27
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Functional Characterization of Splice Variants in the Diagnosis of Albinism.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8657, doi. 10.3390/ijms25168657
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- Article
Triple diagnosis of Wiedemann‐Steiner, Waardenburg and DLG3‐related intellectual disability association found by WES: A case report.
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- Journal of Gene Medicine, 2020, v. 22, n. 8, p. 1, doi. 10.1002/jgm.3197
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- Article
Crimean-Congo Hemorrhagic Fever Virus Antibodies among Livestock on Corsica, France, 2014-2016.
- Published in:
- 2020
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- Publication type:
- journal article
African Swine Fever Virus Isolate, Georgia, 2007.
- Published in:
- Emerging Infectious Diseases, 2008, v. 14, n. 12, p. 1870, doi. 10.3201/eid1412.080591
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- Publication type:
- Article
First detection of African Swine Fever Virus inOrnithodoros porcinus in Madagascar and newinsights into tick distribution and taxonomy.
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- Parasites & Vectors, 2010, v. 3, n. 1, p. 115, doi. 10.1186/1756-3305-3-115
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- Article
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
- Published in:
- 2021
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- Publication type:
- journal article
KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 2, p. 332, doi. 10.1002/ana.26662
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- Publication type:
- Article
Electronic structure of aqueous two-dimensional photocatalyst.
- Published in:
- NPJ Computational Materials, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41524-021-00516-6
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- Article
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
- Published in:
- Genes, 2022, v. 13, n. 12, p. 2198, doi. 10.3390/genes13122198
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- Publication type:
- Article
The Dct −/− Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1164, doi. 10.3390/genes13071164
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- Publication type:
- Article
Flying Syringes for Emerging Enzootic Virus Screening: Proof of Concept for the Development of Noninvasive Xenosurveillance Tools Based on Tsetse Flies.
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- Transboundary & Emerging Diseases, 2023, p. 1, doi. 10.1155/2023/9145289
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- Publication type:
- Article
Aminoacylation‐defective bi‐allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 3, p. 358, doi. 10.1111/cge.14269
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- Publication type:
- Article
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 4, p. 468, doi. 10.1111/cge.14022
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- Article
Clinical variability and probable founder effect in oculocutaneous albinism type 7.
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- Clinical Genetics, 2020, v. 97, n. 3, p. 527, doi. 10.1111/cge.13655
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- Publication type:
- Article
Comprehensive Phylogenetic Reconstructions of African Swine Fever Virus: Proposal for a New Classification and Molecular Dating of the Virus.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069662
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- Publication type:
- Article
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31392-3
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- Publication type:
- Article
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31392-3
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- Publication type:
- Article
Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg.
- Published in:
- Acta Dermato-Venereologica, 2019, v. 99, n. 10, p. 921, doi. 10.2340/00015555-3218
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- Publication type:
- Article
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome.
- Published in:
- Pigment Cell & Melanoma Research, 2021, v. 34, n. 1, p. 132, doi. 10.1111/pcmr.12915
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- Article
Molecular characterization of a series of 990 index patients with albinism.
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- Pigment Cell & Melanoma Research, 2018, v. 31, n. 4, p. 466, doi. 10.1111/pcmr.12688
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- Publication type:
- Article
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
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- Pigment Cell & Melanoma Research, 2017, v. 30, n. 6, p. 563, doi. 10.1111/pcmr.12608
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- Publication type:
- Article
Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.
- Published in:
- 2024
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- Publication type:
- Case Study
The regional effect of serum hormone levels on cerebral blood flow in healthy nonpregnant women.
- Published in:
- Human Brain Mapping, 2021, v. 42, n. 17, p. 5677, doi. 10.1002/hbm.25646
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- Publication type:
- Article
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.
- Published in:
- 2022
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- Publication type:
- journal article
Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2627, doi. 10.1002/ajmg.a.62884
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- Publication type:
- Article
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2847, doi. 10.1002/ajmg.a.37878
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- Publication type:
- Article
Detection of Crimean-Congo haemorrhagic fever virus in Hyalomma marginatum ticks, southern France, May 2022 and April 2023.
- Published in:
- Eurosurveillance (15607917), 2024, v. 29, n. 6, p. 8, doi. 10.2807/1560-7917.ES.2024.29.6.2400023
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- Publication type:
- Article