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921
Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency
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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922
Sickling Cells, Cyclic Nucleotides, and Protein Kinases: The Pathophysiology of Urogenital Disorders in Sickle Cell Anemia
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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923
Liver Damage in Type 1 Diabetes Mellitus
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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924
Iron- Refractory Iron Deficiency Anemia: Review Article
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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925
Optimal detection of random phase signal with Doppler frequency offset in Chirp-BOK multi-antenna system
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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926
The Role of Serine Proteases and Antiproteases in the Cystic Fibrosis Lung
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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927
Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family
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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928
X Chromosome Pericentric Inversion: Report of a Case with 46,X,inv(X)(p11.2q26) and a Mini-Review of the Literature
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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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
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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930
Short Paper - Quadratic minimization: from conjugate gradient to an adaptive Polyak’s momentum method with Polyak step-sizes
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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931
SAGE-Based Algorithm for Direction-of-Arrival Estimation and Array Calibration
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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932
Marfan syndrome: insights from animal models
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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933
READING ACHEBE’S THINGS FALL APART FROM CÉSAIRE’S PERSPECTIVE ON ANTICOLONIALISM
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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934
Cell Membrane-Camouflaged Nanoparticles: A Promising Biomimetic Platform for Tumor Therapy
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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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
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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936
The Potential of Mesenchymal Stem Cell-Derived Exosomes to Treat Diabetes Mellitus
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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937
Fundus Autofluorescence and Clinical Applications
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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938
Reinventing and shifting lines in Vita Sackville-West’s Passenger to Teheran (1926)
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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939
Output Feedback Model Predictive Control for NCSs with Input Quantization
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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940
Ecotourisme et parcs naturels : innovations et contradictions sud-africaines, le cas de HIP (Hluhluwe-Imfolozi Park)
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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