Showing 381 - 400 results of 3,155 for search '"phenotype"', query time: 0.06s Refine Results
  1. 381
  2. 382

    Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI) by Ivan William Harsono, Yulia Ariani, Beben Benyamin, Fadilah Fadilah, Dwi Ari Pujianto, Cut Nurul Hafifah, Titis Prawitasari

    Published 2025-02-01
    “…The non-specific clinical finding (phenotype) and identification of novel mutation adds the complexity of diagnosing and confirming rare disease. …”
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    Article
  3. 383

    First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism by Theocharis Koufakis, Amalia Sertedaki, Elizabeth-Barbara Tatsi, Christina-Maria Trakatelli, Spyridon N. Karras, Eleni Manthou, Christina Kanaka-Gantenbein, Kalliopi Kotsa

    Published 2019-01-01
    “…Furthermore, different mutations in the ABCC8 gene have been linked with MODY 12, type 2, and gestational diabetes; however, to the best of our knowledge, this is the first report that associates this specific mutation with diabetes phenotype. ABCC8-related diabetes is characterized by remarkable heterogeneity in terms of clinical presentation and therapeutic approach. …”
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  4. 384
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  6. 386

    Biphenotypic Acute Leukemia versus Myeloid Antigen-Positive ALL: Clinical Relevance of WHO Criteria for Mixed Phenotype Acute Leukemia by William A. Hammond, Pooja Advani, Rhett P. Ketterling, Daniel Van Dyke, James M. Foran, Liuyan Jiang

    Published 2018-01-01
    “…Updated WHO criteria define mixed phenotype acute leukemia (MPAL) with more stringent diagnostic criteria than the formerly described entity biphenotypic acute leukemia (BAL). …”
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    Article
  7. 387

    Prevalence and Clinical Characteristics including Patterns of Antihypertensive Drug Administration of the Different Home Blood Pressure Phenotypes in Treated Hypertensive Patients by Chavalit Chotruangnapa, Tossaporn Thammarux, Piyawan Thongdang

    Published 2022-01-01
    “…The prevalence and associated clinical characteristics of the different home blood pressure phenotypes in treated hypertensive patients were not elucidated. …”
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    Article
  8. 388

    Clinical Management of Children and Adolescents with Neurofibromatosis Type 1 Like Phenotypes and Complex Behavioural Manifestations: A Multidisciplinary and Dimensional Approach by Ana Moscoso, Aurélie Julien, Antoine Tanet, Angèle Consoli, Martine Pagnard, France Trevisan, Isabelle Kemlin, Diana Rodriguez, David Cohen

    Published 2019-01-01
    “…Here we describe patients with NF1 or NF1-like phenotypes referred to a Tier 3 Child and Adolescent Psychiatry Department and highlight the benefits of a multidisciplinary assessment. …”
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    Article
  9. 389

    Genotypic and Phenotypic Characterizations of Methicillin-Resistant Staphylococcus aureus (MRSA) on Frequently Touched Sites from Public Hospitals in South Africa by Siyethaba Mkhize, Daniel G. Amoako, Christiana O. Shobo, Oliver T. Zishiri, Linda A. Bester

    Published 2021-01-01
    “…Isolation of S. aureus and confirmation were done using genotypic and phenotypic methods. Antibiotic susceptibility testing was performed using the Kirby–Bauer disk-diffusion method. …”
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    Article
  10. 390
  11. 391

    Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report by Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake, Naomichi Matsumoto, Yuishin Izumi

    Published 2024-08-01
    “…A literature review revealed that the genotype‒phenotype correlation in MORC2-related disorders is complex and that the same mutation can cause a variety of phenotypes.…”
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    Article
  12. 392

    Assessment of microbial diversity and antimicrobial resistance in raw camel milk: Genomic and phenotypic analysis of Kharai and Kutchi breeds of Gujarat, India by Hetvi J. Adhyaru, Devangi B. Mangroliya, Jayesh H. Kabariya, Vimal M. Ramani

    Published 2025-03-01
    “…This comprehensive assessment of both genotypic and phenotypic AMR profiles in raw camel milk provides crucial insights into its microbial diversity and spread of antimicrobial resistance.…”
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    Article
  13. 393

    Phenotypic diversity of bread wheat lines with introgressions from the diploid cereal Aegilops speltoides for technological properties of grain and f lour by L. V. Shchukina, I. F. Lapochkina, T. A. Pshenichnikova

    Published 2020-12-01
    “…The aim of this study was to establish the possibilities of expanding the phenotypic diversity for technological properties of grain and flour as a result of such hybridization of bread wheat and the diploid cereal Aegilops speltoides. …”
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  14. 394

    Abnormal methylation of Mill1 gene regulates osteogenic differentiation involved in various phenotypes of skeletal fluorosis in rats and methionine intervention by Niannian Chen, Jing Zhang, Congyu Yin, Yudan Liao, Lei Song, Ting Hu, Xueli Pan

    Published 2025-01-01
    “…In a previous study, we screened eight genes with differential methylation associated with various phenotypes of skeletal fluorosis. By combining gene functions, Mill1 gene was selected for subsequent experiments. …”
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  15. 395

    β-Catenin mediated TAM phenotype promotes pancreatic cancer metastasis via the OSM/STAT3/LOXL2 axis by Yijia Zhang, Xinya Zhu, Liyuan Chen, Tianyu Gao, Guang Chen, Jin Zhu, Guoyu Wang, Daiying Zuo

    Published 2025-02-01
    “…Mechanistically, β-catenin activation directly regulated both TAM phenotype and OSM expression, while TAM-conditioned medium enhanced PDAC cell migration, invasion, and lung metastasis. …”
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    Article
  16. 396

    A Preliminary Evaluation of Variability, Genetic Estimates, and Association among Phenotypic Traits of African Yam Bean Landraces from Ghana by Remember Roger Adjei, Esther Fobi Donkor, Kwadwo Gyasi Santo, Charles Adarkwah, Amanda Sarfo Boateng, Daniel Ntiamoah Afreh, Edward Sallah

    Published 2023-01-01
    “…There were significant differences (p<0.05) for the traits studied, except for days to 50% emergence, petiole length, days to maturity, stem diameter, days to 50% flowering, pod weight, pod beak length, pod weight per plant, seed length, and seed width. The phenotypic coefficient of variation and genotypic coefficient of variation for the yield and yield components ranged from 9.43% to 18.92% and 3.25% to 15.93%, respectively, and from 9.35% to 20.08% and 2.15% to 23.28%, respectively, for the growth parameters. …”
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  17. 397

    miR-145 Alleviates Smooth Muscle Cell Phenotype Transition via ADAM17-Mediated ACE2 Shedding by Juan Wen, Baiyi Tang, Lan Guo, Wei Chen, Xiaohong Tang

    Published 2023-01-01
    “…The present study was to examine whether miR-145 modulates phenotypic transformation of VSMCs under normal state and synthetic state and to explore the possible role of ADAM17-mediated ACE2 shedding and ACE2-Ang-(1–7)-Mas receptor axis. …”
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  19. 399

    Phenotypic Variation in Freshwater Murrel, Channa punctatus (Bloch, 1793) from Northern and Eastern Regions of India Using Truss Analysis by Ankur Kashyap, Madhu Awasthi, Mohammad Serajuddin

    Published 2016-01-01
    “…These results support the existence of multiracial composition of C. punctatus across the different geographical isolated sites and, thus, these findings indicate the presence of three different phenotypic stocks of C. punctatus.…”
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