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Synthesis and properties of processable poly(benzimidazole-imide)s based on 2-(3-aminophenyl)-5-aminobenzimidazole.
- Published in:
- Journal of Polymer Research, 2019, v. 26, n. 12, p. 1, doi. 10.1007/s10965-019-1930-2
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- Publication type:
- Article
Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.
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- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.600210
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- Article
New Insight into the Genotype-Phenotype Correlation of PRPH2 -Related Diseases Based on a Large Chinese Cohort and Literature Review.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6728, doi. 10.3390/ijms24076728
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- Article
Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 5012, doi. 10.3390/ijms24055012
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- Article
Dynamic tensile response of Zr<sub>41.2</sub>Ti<sub>13.8</sub>Cu<sub>12.5</sub>Ni<sub>10</sub>Be<sub>22.5</sub> bulk metallic glass.
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- Journal of Materials Science Letters, 2003, v. 22, n. 5, p. 407, doi. 10.1023/A:1022669832084
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- Article
Truncation mutations in MYRF underlie primary angle closure glaucoma.
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- Human Genetics, 2023, v. 142, n. 1, p. 103, doi. 10.1007/s00439-022-02487-0
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- Article
Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families.
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- Human Genetics, 2020, v. 139, n. 8, p. 1057, doi. 10.1007/s00439-020-02156-0
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- Article
Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1.
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- Journal of Human Genetics, 2012, v. 57, n. 12, p. 756, doi. 10.1038/jhg.2012.103
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- Article
Confirmation of a genetic locus for X-linked recessive high myopia outside MYP1.
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- Journal of Human Genetics, 2007, v. 52, n. 5, p. 469, doi. 10.1007/s10038-007-0130-9
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- Article
Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy.
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- Journal of Human Genetics, 2006, v. 51, n. 10, p. 851, doi. 10.1007/s10038-006-0032-2
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- Article
Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1.
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- Journal of Human Genetics, 2006, v. 51, n. 8, p. 695, doi. 10.1007/s10038-006-0009-1
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- Article
CSNB1 in Chinese families associated with novel mutations in NYX.
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- Journal of Human Genetics, 2006, v. 51, n. 7, p. 634, doi. 10.1007/s10038-006-0406-5
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- Article
Linkage analysis of two families with X-linked recessive congenital motor nystagmus.
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- Journal of Human Genetics, 2006, v. 51, n. 1, p. 76, doi. 10.1007/s10038-005-0316-y
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- Article
Correspondence to Rossetti et al.'s review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2315, doi. 10.1002/ajmg.a.61326
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- Article
Pathogenicity evaluation and the genotype–phenotype analysis of OPA1 variants.
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- Molecular Genetics & Genomics, 2021, v. 296, n. 4, p. 845, doi. 10.1007/s00438-021-01783-0
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- Article
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.
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- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0132635
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- Article
Exome Sequencing of 18 Chinese Families with Congenital Cataracts: A New Sight of the <i>NHS</i> Gene.
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- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100455
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- Article
Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes.
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- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0065546
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- Article
Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in Chinese Patients.
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- PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0027750
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- Article
Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis.
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- PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0019458
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- Publication type:
- Article
Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3.
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- Human Genetics, 2019, v. 138, n. 10, p. 1077, doi. 10.1007/s00439-019-02039-z
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- Article
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.
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- Human Genetics, 2014, v. 133, n. 10, p. 1255, doi. 10.1007/s00439-014-1460-2
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- Article
A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692.
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- Human Genetics, 2012, v. 131, n. 5, p. 697, doi. 10.1007/s00439-011-1113-7
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- Publication type:
- Article
Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.
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- Human Genetics, 2007, v. 122, n. 3/4, p. 293, doi. 10.1007/s00439-007-0395-2
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- Article
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 356, doi. 10.1007/s00439-005-0054-4
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- Article
Evolutions of Microstructure and Properties During Cold Rolling of 19Cr Duplex Stainless Steel.
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- Metallurgical & Materials Transactions. Part A, 2016, v. 47, n. 10, p. 5037, doi. 10.1007/s11661-016-3649-6
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- Article
New Economical 19Cr Duplex Stainless Steels.
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- Metallurgical & Materials Transactions. Part A, 2012, v. 43, n. 2, p. 428, doi. 10.1007/s11661-011-0916-4
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- Article
Corrosion behavior of Ni–25Cr–10Fe–3Si–xMo alloys beneath KCl–ZnCl<sub>2</sub> deposits at 650°C: Role of long‐term aging.
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- Materials & Corrosion / Werkstoffe und Korrosion, 2024, v. 75, n. 8, p. 978, doi. 10.1002/maco.202314111
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- Article
Roles of Nb on the oxidation characteristics and oxide scale evolution of Fe‐25Cr‐35Ni‐2.5Al‐<sub>X</sub>Nb alloys at 1000°C and 1100°C.
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- Materials & Corrosion / Werkstoffe und Korrosion, 2023, v. 74, n. 1, p. 91, doi. 10.1002/maco.202213254
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- Article
Insights into the oxidation behavior of Ni–25Cr–10Fe–xSi (x = 1, 2, 3, 4 wt%) alloys at 1000°C in ambient air.
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- Materials & Corrosion / Werkstoffe und Korrosion, 2022, v. 73, n. 9, p. 1359, doi. 10.1002/maco.202213063
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- Article
Identification of CNGA3 Mutations in 46 Families: Common Cause of Achromatopsia and Cone-Rod Dystrophies in Chinese Patients.
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- 2014
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- Journal Article
Identification of CNGA3 Mutations in 46 Families.
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- JAMA Ophthalmology, 2014, v. 132, n. 9, p. 1076, doi. 10.1001/jamaophthalmol.2014.1032
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- Article
Effects of Nb on Creep Properties and Hot Corrosion Resistance of New Alumina-Forming Austenitic Steels at 700 °C.
- Published in:
- Metals (2075-4701), 2024, v. 14, n. 8, p. 870, doi. 10.3390/met14080870
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- Article
Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic.
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- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1239886
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- Article
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
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- Journal of Translational Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12967-024-04886-5
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- Article
Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.
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- Molecular Vision, 2021, v. 27, p. 309
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- Article
Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.
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- Molecular Vision, 2021, v. 27, p. 50
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- Article
Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.
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- Molecular Vision, 2020, v. 26, p. 588
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- Article
Spectrum, frequency, and genotype--phenotype of mutations in SPATA7.
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- Molecular Vision, 2019, v. 25, p. 821
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- Article
Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.
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- Molecular Vision, 2016, v. 22, p. 1
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- Article
Xlinked-heterozygous mutations in ARR3 cause female-limited early onset high myopia.
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- Molecular Vision, 2016, v. 22, p. 1
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- Article
Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia.
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- Molecular Vision, 2016, v. 22, p. 1
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- Article
A novel deep intronic COL2A1 mutation in a family with early‐onset high myopia/ocular‐only Stickler syndrome.
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- Ophthalmic & Physiological Optics, 2020, v. 40, n. 3, p. 281, doi. 10.1111/opo.12682
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- Article
Common variants in chromosome 4q25 are associated with myopia in Chinese adults.
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- Ophthalmic & Physiological Optics, 2012, v. 32, n. 1, p. 68, doi. 10.1111/j.1475-1313.2011.00885.x
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- Article
RGR variants in different forms of retinal diseases: The undetermined role of truncation mutations.
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- Molecular Medicine Reports, 2016, v. 14, n. 5, p. 4811, doi. 10.3892/mmr.2016.5847
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- Publication type:
- Article
Mutation analysis of Leber congenital amaurosis-associated genes in patients with retinitis pigmentosa.
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- Molecular Medicine Reports, 2015, v. 11, n. 3, p. 1827, doi. 10.3892/mmr.2014.2894
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- Publication type:
- Article
Variants in HNRNPH1 are associated with high myopia in humans and ocular coloboma in zebrafish.
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- Clinical Genetics, 2022, v. 102, n. 5, p. 424, doi. 10.1111/cge.14213
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- Publication type:
- Article
CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 12, p. 1959, doi. 10.1093/hmg/ddz029
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- Article
Landscape of pathogenic variants in six pre‐mRNA processing factor genes for retinitis pigmentosa based on large in‐house data sets and database comparisons.
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- Acta Ophthalmologica (1755375X), 2022, v. 100, n. 7, p. e1412, doi. 10.1111/aos.15104
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- Article
RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.
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- Acta Ophthalmologica (1755375X), 2020, v. 98, n. 2, p. e181, doi. 10.1111/aos.14181
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- Article