Works matching DE "RECESSIVE genes"
Results: 2062
Miller's Syndrome with Bleeding Nasal Polyp.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 1, p. 553, doi. 10.1007/s12070-024-05192-8
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Quantitative traits of productivity and yield of sesame varieties in steppe of Ukraine.
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- Bulgarian Journal of Crop Science / Rastenievdni Nauki, 2025, v. 62, n. 1, p. 57, doi. 10.61308/LZOM8934
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Characterization of Indian waxy and non-waxy maize germplasm for genetic differentiation through SNP genotyping.
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- Molecular Genetics & Genomics, 2025, v. 300, n. 1, p. 1, doi. 10.1007/s00438-024-02222-6
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The male sterility of bread wheat line XN291S was resulted from the deletion of a large segment at the end of 6BS.
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- Euphytica, 2023, v. 219, n. 6, p. 1, doi. 10.1007/s10681-023-03191-4
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Genetic analysis and mapping of a short-internode gene (cladw) in watermelon (Citrullus lanatus L.).
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- Euphytica, 2022, v. 218, n. 8, p. 1, doi. 10.1007/s10681-022-03060-6
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Insights on atypical adult plant resistance phenomenon in Andean bean cultivar Baspa (KRC-8) to Colletotrichum lindemuthianum, the bean anthracnose pathogen.
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- Euphytica, 2022, v. 218, n. 6, p. 1, doi. 10.1007/s10681-022-03018-8
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Tagging of SSR markers associated to yellow mosaic virus resistance in black gram (Vigna mungo (L.) Hepper).
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- Euphytica, 2022, v. 218, n. 3, p. 1, doi. 10.1007/s10681-022-02976-3
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The multiple-flowering trait conferred by gene mf increases yield of field-grown Cocozelle and Zucchini squash.
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- Euphytica, 2022, v. 218, n. 2, p. 1, doi. 10.1007/s10681-022-02966-5
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Identification of simple sequence repeat (SSR) and single nucleotide polymorphism (SNP) that are associated with the nectariless trait of Gossypium hirsutum L.
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- Euphytica, 2021, v. 217, n. 4, p. 1, doi. 10.1007/s10681-021-02799-8
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Genetic analysis of bud necrosis disease caused by groundnut bud necrosis virus (GBNV) in tomato (Solanum lycopersicum L.).
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- Euphytica, 2020, v. 216, n. 8, p. N.PAG, doi. 10.1007/s10681-020-02657-z
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Identification and molecular mapping of the semi-dwarf locus (sdf-1) in soybean by SLAF-seq method.
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- Euphytica, 2020, v. 216, n. 6, p. 1, doi. 10.1007/s10681-020-02633-7
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Genome-Wide Association Study identify the genetic loci conferring resistance to Coffee Berry Disease (Colletotrichum kahawae) in Coffea arabica var. Rume Sudan.
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- Euphytica, 2020, v. 216, n. 6, p. 1, doi. 10.1007/s10681-020-02621-x
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RNA-Seq analysis of Orobanche resistance in Nicotiana tabacum: development of molecular markers for breeding recessive tolerance from 'Wika' tobacco variety.
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- Euphytica, 2020, v. 216, n. 1, p. 1, doi. 10.1007/s10681-019-2544-9
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Developing genetically segregating populations for localization of novel sugarcane brown rust resistance genes.
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- Euphytica, 2019, v. 215, n. 10, p. N.PAG, doi. 10.1007/s10681-019-2486-2
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Inheritance and relationships of flowering time and seed size in kabuli chickpea.
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- Euphytica, 2019, v. 215, n. 9, p. N.PAG, doi. 10.1007/s10681-019-2464-8
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Genetic improvement of naked-tufted seed mutants in upland cotton (Gossypium hirsutum L.).
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- Euphytica, 2019, v. 215, n. 4, p. N.PAG, doi. 10.1007/s10681-019-2400-y
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Inheritance of ashy stem blight resistance in Andean common bean cultivars 'Badillo' and 'PC 50' and genetic relationship between Andean A 195 and 'PC 50'.
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- Euphytica, 2019, v. 215, n. 2, p. N.PAG, doi. 10.1007/s10681-019-2336-2
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Recent insights into gap junction biogenesis in the cochlea.
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- Developmental Dynamics, 2023, v. 252, n. 2, p. 239, doi. 10.1002/dvdy.538
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Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients.
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- Clinical & Experimental Nephrology, 2019, v. 23, n. 8, p. 1022, doi. 10.1007/s10157-019-01736-3
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Several genetic variants associated with systemic sclerosis in a Chinese Han population.
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- Clinical Rheumatology, 2023, v. 42, n. 3, p. 773, doi. 10.1007/s10067-022-06409-3
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Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation.
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- Clinical Oral Investigations, 2019, v. 23, n. 1, p. 303, doi. 10.1007/s00784-018-2437-7
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A cross-sectional study to find association of VDR gene polymorphism with non-syndromic congenital ichthyosis and with vitamin D deficiency.
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- Archives of Dermatological Research, 2023, v. 315, n. 3, p. 551, doi. 10.1007/s00403-022-02399-z
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Genetic disposition to primary hyperhidrosis: a review of literature.
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- Archives of Dermatological Research, 2019, v. 311, n. 10, p. 735, doi. 10.1007/s00403-019-01966-1
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Genetic assessment of ten Egyptian patients with Sjögren–Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
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- Archives of Dermatological Research, 2019, v. 311, n. 9, p. 721, doi. 10.1007/s00403-019-01953-6
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MMP9 rs17576 Is Simultaneously Correlated with Symptomatic Intracranial Atherosclerotic Stenosis and White Matter Hyperintensities in Chinese Population.
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- Cerebrovascular Diseases, 2021, v. 50, n. 1, p. 4, doi. 10.1159/000511582
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Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients.
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- Human Genetics, 2024, v. 143, n. 11, p. 1323, doi. 10.1007/s00439-024-02703-z
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Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
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- Human Genetics, 2024, v. 143, n. 11, p. 1379, doi. 10.1007/s00439-024-02706-w
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PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
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- Human Genetics, 2024, v. 143, n. 3, p. 311, doi. 10.1007/s00439-024-02649-2
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Screening copy number variations in 35 unsolved inherited retinal disease families.
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- Human Genetics, 2024, v. 143, n. 2, p. 197, doi. 10.1007/s00439-023-02631-4
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Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
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- Human Genetics, 2023, v. 142, n. 7, p. 879, doi. 10.1007/s00439-023-02563-z
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Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.
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- Human Genetics, 2023, v. 142, n. 5, p. 691, doi. 10.1007/s00439-022-02486-1
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PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.
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- Human Genetics, 2023, v. 142, n. 4, p. 477, doi. 10.1007/s00439-023-02527-3
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C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.
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- Human Genetics, 2022, v. 141, n. 8, p. 1423, doi. 10.1007/s00439-022-02433-0
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Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 431, doi. 10.1007/s00439-022-02444-x
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Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 445, doi. 10.1007/s00439-022-02443-y
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DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 401, doi. 10.1007/s00439-022-02440-1
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Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 903, doi. 10.1007/s00439-022-02431-2
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Genetic etiology of hearing loss in Iran.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 623, doi. 10.1007/s00439-021-02421-w
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COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype–genotype study.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 889, doi. 10.1007/s00439-021-02368-y
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Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 929, doi. 10.1007/s00439-021-02364-2
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Molecular genetic landscape of hereditary hearing loss in Pakistan.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 633, doi. 10.1007/s00439-021-02320-0
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Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 583, doi. 10.1007/s00439-021-02314-y
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Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 455, doi. 10.1007/s00439-021-02311-1
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Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss.
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- Human Genetics, 2021, v. 140, n. 11, p. 1611, doi. 10.1007/s00439-021-02286-z
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A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.
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- Human Genetics, 2021, v. 140, n. 11, p. 1569, doi. 10.1007/s00439-021-02266-3
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Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
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- Human Genetics, 2021, v. 140, n. 7, p. 1011, doi. 10.1007/s00439-021-02268-1
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A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
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- Human Genetics, 2021, v. 140, n. 6, p. 915, doi. 10.1007/s00439-020-02254-z
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Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
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- Human Genetics, 2020, v. 139, n. 12, p. 1565, doi. 10.1007/s00439-020-02197-5
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Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
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- Human Genetics, 2020, v. 139, n. 11, p. 1443, doi. 10.1007/s00439-020-02188-6
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Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
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- Human Genetics, 2020, v. 139, n. 11, p. 1429, doi. 10.1007/s00439-020-02187-7
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