Showing 921 - 940 results of 1,440 for search '"inheritance"', query time: 0.06s Refine Results
  1. 921

    Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency by Ana María Navarro, Gabriela Mantilla, Jorge Andrés Fernández, Mario Fernando Unigarro, Alfonso Suárez, María Claudia Ortega

    Published 2024-12-01
    “…Cernunnos/XLF deficiency is a rare, severe combined immunodeficiency, inherited in an autosomal recessive pattern (OMIM number: 611290), related to the NHEJ1 gene. …”
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  2. 922

    Sickling Cells, Cyclic Nucleotides, and Protein Kinases: The Pathophysiology of Urogenital Disorders in Sickle Cell Anemia by Mário Angelo Claudino, Kleber Yotsumoto Fertrin

    Published 2012-01-01
    “…Sickle cell anemia is one of the best studied inherited diseases, and despite being caused by a single point mutation in the HBB gene, multiple pleiotropic effects of the abnormal hemoglobin S production range from vaso-occlusive crisis, stroke, and pulmonary hypertension to osteonecrosis and leg ulcers. …”
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  3. 923

    Liver Damage in Type 1 Diabetes Mellitus by A. O. Bueverov, A. V. Zilov

    Published 2021-06-01
    “…Its important link is a likely inherited non-physiological insulin supply to the tissue, especially at marked glycaemic fluctuations. …”
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  4. 924

    Iron- Refractory Iron Deficiency Anemia: Review Article by Eman Ahmed Abd -Elmawgood, Mohammed H. Hassan, Dina Hussein Mobark, Nagwan Ibrahim Rashwan

    Published 2024-07-01
    “…Background: IRIDA is an inherited recessive anaemia caused by a defect in the TMPRSS6 gene, which codes for the enzyme matriptase-2. …”
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  5. 925

    Optimal detection of random phase signal with Doppler frequency offset in Chirp-BOK multi-antenna system by Hongbing QIU, Xinyu QIAO, Lin ZHENG, Chao YANG, Weiwei YAO, Jing ZHANG

    Published 2018-07-01
    “…When there are Doppler frequency deviation and phase noise in channel,the MIMO-OFDM system with coherent detection requires complicated and accurate frequency offset estimation and Doppler compensation.Based on this,an optimal random phase detection was proposed in multi-antenna Chirp-BOK system,which improved the system capacity by space division multiplexing in the condition of anti-interference and anti-frequency deviation.The equivalent MIMO channel coefficient matrix of multi-antenna Chirp-BOK system was derived as a real matrix,so as to reduce the complexity of channel estimation and avoid to be affected by random phase.A two plus two wireless transceiver system was built on the NI USRP-2942R platform.Simulation and experiment results show that the MIMO-Chirp-BOK system inherits the advantages of low complexity,insensitivity to phase shift and frequency offset of Chirp-BOK communication system.It achieves multiplied communication capacity by increasing the number of antennas.…”
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  6. 926

    The Role of Serine Proteases and Antiproteases in the Cystic Fibrosis Lung by Matthew S. Twigg, Simon Brockbank, Philip Lowry, S. Peter FitzGerald, Clifford Taggart, Sinéad Weldon

    Published 2015-01-01
    “…Cystic fibrosis (CF) lung disease is an inherited condition with an incidence rate of approximately 1 in 2500 new born babies. …”
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  7. 927

    Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family by Xia Wu, Shan Wang, Sen Chen, Ying-ying Wen, Bo Liu, Wen Xie, Dan Li, Lin Liu, Xiang Huang, Yu Sun, Wei-jia Kong

    Published 2018-01-01
    “…The two mutations are the first reported to be the cause of recessively inherited sensorineural hearing loss. Hearing loss levels and progression involved by PTPRQ mutations among the existing cases seem to be varied, and the relationship between genotypes and phenotypes is unclear. …”
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  8. 928

    X Chromosome Pericentric Inversion: Report of a Case with 46,X,inv(X)(p11.2q26) and a Mini-Review of the Literature by Emine Göktaş, Betül Okur Altındaş, Ayşe Gül Zamani, Mahmut Selman Yıldırım

    Published 2024-07-01
    “…Segregation analysis of the family members revealed that she inherited the pericentric inversion from her father and passed it on to her daughter. …”
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  9. 929

    La forme scolaire : analyse d’un concept clé pour comprendre la difficile prise en compte de l’hétérogénéité des élèves à l’école primaire française by Sylvie Jouan

    Published 2024-11-01
    “…On the other hand, I intend to prove, by drawing on the socio-historical context in which this concept was devised, that the school form as it arose in France builds on the pedagogical model inherited from the work of Jean-Baptiste de La Salle. …”
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  10. 930

    Short Paper - Quadratic minimization: from conjugate gradient to an adaptive Polyak’s momentum method with Polyak step-sizes by Goujaud, Baptiste, Taylor, Adrien, Dieuleveut, Aymeric

    Published 2024-11-01
    “…This method happens to also be equivalent to a variation of the classical conjugate gradient method, and thereby inherits many of its attractive features, including its finite-time convergence, instance optimality, and its worst-case convergence rates.The classical gradient method with Polyak step-sizes is known to behave very well in situations in which it can be used, and the question of whether incorporating momentum in this method is possible and can improve the method itself appeared to be open. …”
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  11. 931

    SAGE-Based Algorithm for Direction-of-Arrival Estimation and Array Calibration by Kunlai Xiong, Zheng Liu, Wenli Jiang

    Published 2014-01-01
    “…The proposed method inherits the characteristics of good convergence and high estimation precision of the SAGE algorithm. …”
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  12. 932

    Marfan syndrome: insights from animal models by Yuanyuan Jiang, Ping Jia, Xiaoying Feng, Dingding Zhang

    Published 2025-01-01
    “…Marfan syndrome (MFS) is an inherited disorder that affects the connective tissues and mainly presents in the bones, eyes, and cardiovascular system, etc. …”
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  13. 933

    READING ACHEBE’S THINGS FALL APART FROM CÉSAIRE’S PERSPECTIVE ON ANTICOLONIALISM by Yohanes Tuaderu

    Published 2024-03-01
    “…The harassment of human values - what Césaire called "thingification", trampled culture, damaged socio-cultural foundations, destroyed native religions, and confiscated ancestral inherited lands have apparently become the trigger for the struggle against colonialism. …”
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  14. 934

    Cell Membrane-Camouflaged Nanoparticles: A Promising Biomimetic Platform for Tumor Therapy by Chengliang Lyu, Wenjin Wang, Yuan Yang, Peilin Guo, Feng Li, Wei Wei

    Published 2025-12-01
    “…Cell membrane camouflaging can provide “stealth” ability to NPs for avoiding recognition and elimination by the immune system, and endows NPs with diverse functionalities via inheriting the functions of parent cells, representing a facile top-down approach for multi-functionalization. …”
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  15. 935

    Itinérances politiques et éducatives franco-espagnoles. « Voir ce qui doit être vu » : les trois voyages d'Henri Wallon en Espagne républicaine de 1936 à 1938 by Mari Carmen Rodriguez

    Published 2023-01-01
    “…Actually, this territory constitutes a laboratory of «new education», inherited from a long period of exchanges between liberal elites since the 18th century, for whom education is a founding and emancipatory sharing. …”
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  16. 936

    The Potential of Mesenchymal Stem Cell-Derived Exosomes to Treat Diabetes Mellitus by Ju-El Kim, Jong-Won Lee, Gi Doo Cha, Jeong-Kee Yoon

    Published 2025-01-01
    “…These MSC-derived exosomes inherit the regenerative and protective effects from MSCs, inducing pancreatic β-cell proliferation and inhibiting apoptosis, as well as ameliorating insulin resistance by suppressing the release of various inflammatory cytokines. …”
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  17. 937

    Fundus Autofluorescence and Clinical Applications by Cameron Pole, Hossein Ameri

    Published 2021-07-01
    “…Emerging clinical evidence has demonstrated the usefulness of FAF in diagnosis and management of an increasing number of chorioretinal conditions, such as age-related macular degeneration, central serous chorioretinopathy, retinal drug toxicities, and inherited retinal degenerations such as retinitis pigmentosa and Stargardt disease. …”
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  18. 938

    Reinventing and shifting lines in Vita Sackville-West’s Passenger to Teheran (1926) by Leila HAGHSHENAS

    Published 2024-12-01
    “…This paper aims to show that her text is influenced by inherited prejudices that are responsible for her picturing Persia as a land of exotic and romantic adventures. …”
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  19. 939

    Output Feedback Model Predictive Control for NCSs with Input Quantization by Hongchun Qu, Yu Li, Wei Liu

    Published 2022-01-01
    “…The proposed MPC schemes inherit the characteristics of the synthesis approach of MPC, guaranteeing the recursive feasibility of the optimization problem and the stability of a closed-loop system, and explicitly account for quantization error. …”
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  20. 940

    Ecotourisme et parcs naturels : innovations et contradictions sud-africaines, le cas de HIP (Hluhluwe-Imfolozi Park) by Fabrice Folio, Anaëlle Derroisne

    Published 2021-08-01
    “…One also has to relate these facts to the inherited national socio-economical stakes. Finally, the particularity of HIP led in a mixed of seducing and, in such way, ambiguous ecotourism reality, putting together a strong and old provincial conservation programme, a diversified and adaptable tourism activity as well as a gradual involvement from the nearby tribal authorities in the Park policy.…”
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