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781
Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B
Published 2023-12-01“… A 45-year-old female presented with unprovoked recurrent venous thromboembolism (VTE), in unusual sites, and pancytopenia, posing a complex diagnostic challenge. Work-up for inherited thrombophilia, antiphospholipid syndrome (APLS) and paroxysmal nocturnal haemoglobinuria were unremarkable. …”
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782
Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation
Published 2025-03-01“…X-linked retinoschisis (XLRS) is an inherited retinal disease caused by mutation in RS1 gene. …”
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783
SOME IDEAS ABOUT JAR-REBURIAL CUSTOM OF TAY, HOA, NUNG, THAI INHABITANTS IN LIENNGHIA TOWN, DUCTRONG DISTRICT, LAMDONG PROVINCE, VIETNAM
Published 2018-12-01“…Based on the fieldwork data in Liennghia town by the author and documents on the Internet about the Zhuang and Hakka ethnic groups in South-East China, the author argues that the jar reburial custom practiced today by the Tay, Hoa, Nung, and Thai in Liennghia town, Ductrong district, Lamdong province, Vietnam is an inherited tradition from their old homeland in South-East China. …”
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784
Human induced pluripotent stem cell line XXMUFAi001-A generated from a patient harboring KCNH2 mutation (c. 2690 A>C)
Published 2025-02-01“…Long QT syndrome type 2 (LQT2), caused by mutations in the KCNH2 gene, is an inherited ion channel disorder associated with sudden death in adolescents. …”
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785
Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH
Published 2016-01-01“…DFNA9 is a late-onset, progressive, autosomal dominantly inherited sensorineural hearing loss with vestibular dysfunction, which is caused by mutations in the COCH (coagulation factor C homology) gene. …”
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786
Phylogenomics reveal that plants colonized land together with their fungal symbiotic partners
Published 2023-02-01“…This similarity suggests that those mechanisms were inherited from their last common ancestor, a lineage that emerged from an aquatic environment 450 million years ago. …”
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787
Pratiques d'une métropole émergente par les usagers des transports en commun, le cas du Cap, Afrique du Sud
Published 2012-10-01“…It results in long and fastidious mobilities for low-income populations, whereas the transport system is still largely inherited from the apartheid era. The study of the maids' mobilities enables to enlighten these socio-spatial changes, especially through the observation of their practice of the transport network, the strategies they adopt to move and through their experience of the transport space.…”
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788
Newer Hemostatic Agents Used in the Practice of Dermatologic Surgery
Published 2013-01-01“…Patients that have a bleeding diathesis, an inherited/acquired coagulopathy, or who are on anticoagulant/antiplatelet medications pose a greater risk for bleeding complications during the postoperative period. …”
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789
Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child
Published 2013-01-01“…Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency syndrome that results from abnormal nicotinamide adenine dinucleotide phosphate (NADPH) oxidase function. …”
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790
Bromodomain-Containing Protein 4: A Dynamic Regulator of Breast Cancer Metastasis through Modulation of the Extracellular Matrix
Published 2012-01-01“…Recently, we have shown that the bromodomain-containing protein 4 or bromodomain 4 (Brd4) functions as an inherited susceptibility gene for breast cancer progression and metastasis. …”
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791
An Efficient Solution to Optimal Motion Planning With Provable Safety and Convergence
Published 2024-01-01“…The proposed method inherits the positive traits of continuous methods, while at the same time providing sub-optimal –but close to optimal– results significantly faster and in more complex workspaces than previous ones. …”
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792
Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency
Published 2025-01-01“…Cytosolic isoleucyl-tRNA synthetase (IARS1) deficiency, an exceptionally rare autosomal recessive inherited disorder, is characterized by multiple system involvement, including growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy. …”
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793
Three Cases of Pigmentary Incontinence and Literature Review
Published 2024-10-01“…Background: Incontinentia pigmenti (IP) is a rare X-linked dominantly inherited genetic skin disorder in which most male infants cannot survive. …”
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794
Diagnostic Pitfalls in Newborns and Babies with Blisters and Erosions
Published 2009-01-01“…., infectious, immunobullous, traumatic) and inherited disorders have to be taken into consideration. …”
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795
HOTSSea v1: a NEMO-based physical Hindcast of the Salish Sea (1980–2018) supporting ecosystem model development
Published 2025-01-01“…Overall, despite the biases inherited from forcings and a relatively coarse horizontal discretisation, HOTSSea v1 performs well at representing temperature and salinity at the spatial–temporal scales needed to support research related to decadal-scale climate effects on marine ecosystems, fish, and fisheries. …”
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796
The book graphics of Vilnius printing houses in XVI-XVII centuries
Published 2024-08-01“…The first books published in Vilnius had no uniform style because the printer was responsible for the appearance of a book in addition to other duties. Besides two inherited traditions of book illustration (the Eastern one that used two-colored printing inherited from Russian manuscripts; the Western one coming from German book decoration), a third, new and modern decoration with emblems emerged during the first period. …”
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797
ОБ ИСТОРИИ ЧЕРЕДОВАНИЯ ГЛАСНЫХ іі/И В КОРНЕВОМ СЛОГЕ В РУССКОМ ЯЗЫКЕ
Published 2018-10-01“…This vowel alteration wasn’t caused by any phonetic changes in Old Russian being a spontaneous process inherited from the pre-written period of language development. …”
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798
TD-LTE and TD-SCDMA Collaborative Network Optimizing Strategy
Published 2015-08-01“…Compared to traditional network,the network structure has a greater impact on the quality of TD-LTE network.If only upgrade directly in the original site based on TD-SCDMA,the original structure and quality issues would be inherited.On the basis of the problems encountered in the shared antenna collaborative optimization,a collaborative network optimization method was presented.Network problems of TD-SCDMA and TD-LTE were solved from the dimensions of network structure,coverage and interference by using project parameters,measurement report,frequency sweep test,driving test and other data.After that,by using network planning and optimization tools,collaborative optimization scheme was outputted and verified in the existing network to solve these problems.Finally,TD-SCDMA and TD-LTE collaborative optimization adjustment strategy was summed up by evaluating implementation effects.…”
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799
The cultural and historical significance of malopo ritual: a Pedi perspective
Published 2014-12-01“…During the study, informal discussions with traditional healers and their trainees revealed that participation in malopo rituals enables community members to inherit their music tradition. The impression created during interviews and observations was that Pedi traditional healers perform malopo songs to communicate with the ancestors. …”
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800
“Nothing could stop it, nothing”: The Burden of Postsouthern History in Barry Hannah’s “Uncle High Lonesome”
Published 2018-07-01“…This paper argues for Hannah’s unique currency in ongoing critical debates, both in the new southern studies and in southern literary studies more broadly, about the future of “South” and the concept of inherited historical memory in a post-regional and post-historical culture. …”
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