Found: 39
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Abnormal photoreceptor outer segment development and early retinal degeneration in kif3a mutant zebrafish.
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- Cell Biochemistry & Function, 2016, v. 34, n. 6, p. 429, doi. 10.1002/cbf.3205
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Propagating-path uniformly scanned light sheet excitation microscopy for isotropic volumetric imaging of large specimens.
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- Journal of Biomedical Optics, 2019, v. 24, n. 8, p. 1, doi. 10.1117/1.JBO.24.8.086501
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- Article
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 565, doi. 10.1007/s10038-007-0152-3
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A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.
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- Journal of Human Genetics, 2006, v. 51, n. 12, p. 1133, doi. 10.1007/s10038-006-0071-8
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A novel heterozygous mutation in the Indian hedgehog gene ( IHH) is associated with brachydactyly type A1 in a Chinese family.
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- Journal of Human Genetics, 2006, v. 51, n. 8, p. 727, doi. 10.1007/s10038-006-0012-6
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- Article
A PCR-Based Method for RNA Probes and Applications in Neuroscience.
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- Frontiers in Neuroscience, 2018, p. 1, doi. 10.3389/fnins.2018.00266
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- Article
Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy.
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- Scientific Reports, 2017, p. 46098, doi. 10.1038/srep46098
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Cloning and Functional Characterization of Novel Variants and Tissue-Specific Expression of Alternative Amino and Carboxyl Termini of Products of <i>Slc4a10</i>.
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- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0055974
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NovelCACNA1Smutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.
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- Journal of Molecular Medicine, 2005, v. 83, n. 3, p. 203, doi. 10.1007/s00109-005-0638-4
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Significant association of SNP rs2106261 in the ZFHX3 gene with atrial fibrillation in a Chinese Han GeneID population.
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- Human Genetics, 2011, v. 129, n. 3, p. 239, doi. 10.1007/s00439-010-0912-6
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- Article
Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population.
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- Human Genetics, 2009, v. 126, n. 6, p. 843, doi. 10.1007/s00439-009-0737-3
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- Article
Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3–p31.1.
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- Human Genetics, 2008, v. 123, n. 5, p. 507, doi. 10.1007/s00439-008-0504-x
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- Article
A novel mutation in the ATP2C1 gene is associated with Hailey–Hailey disease in a Chinese family.
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- International Journal of Dermatology, 2009, v. 48, n. 1, p. 47, doi. 10.1111/j.1365-4632.2009.03878.x
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Lysosomal membrane protein TMEM106B modulates hematopoietic stem and progenitor cell proliferation and differentiation by regulating LAMP2A stability.
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- FASEB Journal, 2024, v. 38, n. 15, p. 1, doi. 10.1096/fj.202400727R
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- Article
Impaired fertility in 4930590J08Rik mutant male mice is associated with defective sperm energy metabolism.
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- FASEB Journal, 2022, v. 36, n. 12, p. 1, doi. 10.1096/fj.202200805RR
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The chromatin remodeler Brg1 is required for formation and maintenance of hematopoietic stem cells.
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- FASEB Journal, 2020, v. 34, n. 9, p. 11997, doi. 10.1096/fj.201903168RR
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A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome.
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- Molecular Vision, 2020, v. 26, p. 670
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Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
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- Molecular Vision, 2016, v. 22, p. 1
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Comprehensive characterization of alternative splicing in renal cell carcinoma.
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- Briefings in Bioinformatics, 2021, v. 22, n. 5, p. 1, doi. 10.1093/bib/bbab084
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Identification of a Genetic Locus for Ichthyosis Vulgaris on Chromosome 10q22.3–q24.2.
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- Journal of Investigative Dermatology, 2008, v. 128, n. 6, p. 1418, doi. 10.1038/sj.jid.5701191
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Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome.
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- Nature, 2004, v. 427, n. 6975, p. 640, doi. 10.1038/nature02320
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- Article
CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish.
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- Human Molecular Genetics, 2017, v. 26, n. 12, p. 2335, doi. 10.1093/hmg/ddx137
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Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish.
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- Human Molecular Genetics, 2015, v. 24, n. 16, p. 4648, doi. 10.1093/hmg/ddv197
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Tulp1 deficiency causes early-onset retinal degeneration through affecting ciliogenesis and activating ferroptosis in zebrafish.
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- Cell Death & Disease, 2022, v. 13, n. 11, p. 1, doi. 10.1038/s41419-022-05372-w
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A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics.
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- Movement Disorders, 2022, v. 37, n. 3, p. 598, doi. 10.1002/mds.28885
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- Article
Knockout of mafba Causes Inner-Ear Developmental Defects in Zebrafish via the Impairment of Proliferation and Differentiation of Ionocyte Progenitor Cells.
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- Biomedicines, 2021, v. 9, n. 11, p. 1699, doi. 10.3390/biomedicines9111699
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Effects of Nt-truncation and coexpression of isolated Nt domains on the membrane trafficking of electroneutral Na<sup>+</sup>/HCO<sub>3</sub><sup>-</sup> cotransporters.
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- Scientific Reports, 2015, p. 12241, doi. 10.1038/srep12241
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Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing.
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- Nucleic Acids Research, 2021, v. 49, n. 4, p. 2027, doi. 10.1093/nar/gkab003
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Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy.
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- SCIENCE CHINA Life Sciences, 2023, v. 66, n. 9, p. 2152, doi. 10.1007/s11427-022-2313-1
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Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis.
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- Neuroscience Bulletin, 2023, v. 39, n. 1, p. 57, doi. 10.1007/s12264-022-00893-y
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- Article
Rod genesis driven by mafba in an nrl knockout zebrafish model with altered photoreceptor composition and progressive retinal degeneration.
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- PLoS Genetics, 2022, v. 18, n. 3, p. 1, doi. 10.1371/journal.pgen.1009841
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Deficiency of copper responsive gene stmn4 induces retinal developmental defects.
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- Cell Biology & Toxicology, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s10565-024-09847-8
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Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa.
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- Human Mutation, 2000, v. 15, n. 6, p. 584, doi. 10.1002/1098-1004(200006)15:6<584::AID-HUMU26>3.0.CO;2-O
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NINJ2 deficiency inhibits preadipocyte differentiation and promotes insulin resistance through regulating insulin signaling.
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- Obesity (19307381), 2023, v. 31, n. 1, p. 123, doi. 10.1002/oby.23580
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Cross-species single-cell landscapes identify the pathogenic gene characteristics of inherited retinal diseases.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1409016
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Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.
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- BMC Medical Genetics, 2010, v. 11, p. 121, doi. 10.1186/1471-2350-11-121
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Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.
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- BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-87
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Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.
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- BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-24
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A novel DSPP mutation is associated with type II dentinogenesis Imperfecta in a chinese family.
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- BMC Medical Genetics, 2007, v. 8, p. 1, doi. 10.1186/1471-2350-8-52
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- Article