Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature by Jan Fischer, Mariëlle Alders, Marcel M. A. M. Mannens, David Genevieve, Karl Hackmann, Evelin Schröck, Bekim Sadikovic, Joseph Porrmann

“…Abstract Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). …”
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The breakdown of the cytokine network subsequent to human immunodeficiency virus infection by M. Clerici, M. L. Villa, D. Trabattoni, G. M. Shearer

“…The reduction in CD4 T lymphocyte counts is the hallmark of HIV infection; nevertheless, long before the reduction in CD4 counts reaches critical levels, a series of profound and complex defects that impair the function of CD4 T lymphocytes can be detected. …”
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High Sensitive Methods for Health Monitoring of Compressor Blades and Fatigue Detection by Mirosław Witoś

“…The polycrystalline defects and impurities influencing the fatigue, along with their related surface finish techniques, are taken into account. …”
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Long-Term Relaxation Processes of Electrical Conductivity in Compensated Si<B,S> AND Si<B,Rh> Monocrystals by Akramjon Y. Boboev, Khushroy A. Makhmudov, Ziyodjon M. Ibrokhimov

“…With increasing γ-irradiation dose, the second characteristic relaxation time (τ₂) first sharply increases and then reaches the saturation state at a certain high dose, which is explained by the limited number of deep energy defects formed under irradiation. …”
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Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. by Rebecca E McIntyre, Pavithra Lakshminarasimhan Chavali, Ozama Ismail, Damian M Carragher, Gabriela Sanchez-Andrade, Josep V Forment, Beiyuan Fu, Martin Del Castillo Velasco-Herrera, Andrew Edwards, Louise van der Weyden, Fengtang Yang, Sanger Mouse Genetics Project, Ramiro Ramirez-Solis, Jeanne Estabel, Ferdia A Gallagher, Darren W Logan, Mark J Arends, Stephen H Tsang, Vinit B Mahajan, Cheryl L Scudamore, Jacqueline K White, Stephen P Jackson, Fanni Gergely, David J Adams

“…The mechanism by which disruption of CENPJ causes the proportionate, primordial growth failure that is characteristic of Seckel syndrome is unknown. By generating a hypomorphic allele of Cenpj, we have developed a mouse (Cenpj(tm/tm)) that recapitulates many of the clinical features of Seckel syndrome, including intrauterine dwarfism, microcephaly with memory impairment, ossification defects, and ocular and skeletal abnormalities, thus providing clear confirmation that specific mutations of CENPJ can cause Seckel syndrome. …”
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Zum Mechanismus der organischen Photoleiter by Hans Meier

“…The recombination of electrons and holes must be considered as a rather complicated process depending, on among other factors, the densities and capture cross sections of defects (traps, recombination states) which are located in the bulk or at the surface of the solid. …”
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Experimental methods of portal hypertension studying by D. V. Garbuzenko

“…Ex vivo studies gave physiological characteristic to the mediators causing splanchnic vasodilation and increasing of vascular tension in cirrhotic liver, and methods of molecular biology identified defects in signalling routes responsible for disorders of metabolism of these substances.Conclusion. …”
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Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up by Antonia Pascarella, Giuseppe Limongelli, Alessandro De Falco, Elia Marco Paolo Minale, Giangiacomo Di Nardo, Giovanni Maria Di Marco, Geremia Zito Marinosci, Giorgia Olimpico, Paolo Siani, Daniele De Brasi

“…The phenotype of Noonan syndrome includes characteristic facial and physical features, congenital cardiac defects, lymphatic and cerebrovascular anomalies, renal malformations, hematological abnormalities, developmental issues, and an increased risk of cancer. …”
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RESULTS OF ORTHOPEDIC TREATMENT USING PERMANENT STRUCTURES SUPPORTED BY DENTAL IMPLANTS IN PRIVATE PRACTICE by D. Korol, K. Toncheva, V. Yarkoviy, D. Kindiy

“…It turned out that the protocol of permanent prosthetics to replace partial defects of the dentition was implemented mainly in the middle-aged group. …”
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Application of Distributed Acoustic Sensing in Anchor Damage Monitoring on Submarine Cables by ZHANG Hong, WU Mingnian, WANG Daogen, MU Zhangjian, XIE Shuhong, WU Zhengming, LI Songlin, CHEN Qingqing

“…The combined computation of multiple feature curves effectively distinguishes profile defects in event contours. By setting morphological feature thresholds, anchor damage events can be rapidly identified. …”
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Enhanced growth of short stature in Ellis-van Creveld syndrome: A case report of a Saudi child by Essam Al Ageeli

“…This case underscores the importance of comprehensive assessment and the potential benefits of GH therapy in EVC patients, particularly those without cardiac defects.…”
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Single-Layer Metasurface-Based Wideband Circularly Polarized Antenna Using CMA With RCS Reduction by Zhendong Ding, Junrui Yu, Jianyin Cao, Hao Wang, Dan Zhang, Michael Yan-Wah Chia, null Nasimuddin

“…The defective ground shows that the difference in characteristic angle (CA) between the two pairs of modes is about 90°. …”
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Fault Detection of a Wheelset Bearing Based on Appropriately Sparse Impulse Extraction by Jianming Ding, Fenglin Li, Jianhui Lin, Bingrong Miao, Lu Liu

“…These results show that the proposed appropriately sparse impulse extraction not only can obtain fault-characteristic frequency and its harmonics for fault judgment but also describes the dynamic behaviour between elementary defects and their matching surfaces. …”
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Sculptors of cerebellar fissures and their potential as therapeutic targets for cerebellar dysfunction by Chiu-Lun Shen, Yu-Young Tsai, Woan-Yuh Tarn

“…The cerebellar cortex is neuron-rich and composed of characteristic folia and fissures. Defective cerebellar development leads to movement disorders and developmental delay. …”
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Topological phases driven by orbital entanglement in Transition Metal Oxide Perovskite interfaces by Gabay, Marc

“…The deceptively simple crystallographic structure of early transition metal oxide perovskites belies the complexity and variety of electronic, magnetic and structural phases that they display. Structural defects, rotations, tilts, deformations of the oxygen-transition metal element octahedra help explain many of these phenomena. …”
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A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant by Michael Gibbs, Alysa Poulin, Yanwei Xi, Bita Hashemi

“…CDK13-related disorder is a newly described genetic condition with characteristic clinical features including mild to severe intellectual disability, developmental delay, neonatal hypotonia, a variety of facial dysmorphism, behavioral problems, congenital heart defects, and structural brain abnormalities. …”
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Molecular diagnosis of Fanconi anemia with next-generation sequencing in a case with subtle signs and a negative chromosomal breakage test by Deniz Aslan, Najim Ameziane, Johan P De Winter

“… Fanconi anemia (FA) is an inherited disorder characterized by malformations, marrow failure, and predisposition to cancer. Birth defects and laboratory features are characteristic and helpful in diagnosis, when present. …”
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Stunned myocardium by Ristić Anđelka, Damjanović Milorad, Baškot Branislav, Matunović Radomir

“…SPECT (Single Photon Emission Computerized Tomography) with Tc 99 and dipyradamole showed normalization of perfusion defects in the apical region. Theree months after the infarction and PTCA, contractility was almost completely recovered. …”
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Process and Properties of Nibased 718 Superalloy Formed  by Selective Laser Melting by YU Yandong, LI Jian, HU Haiting

“…In order to study the effect of laser processing parameters of selective laser melting technology (SLM) on the relative density, Vickers hardness and microstructure of Inconel 718, the FORWEDO LM120 laser melting equipment was used to study four laser processing parameters, namely the scanning speed, laser power, laser energy density and scanning strategy to improve the performance of the workpiece The results show that the scanning speed and laser power are the main factors affecting the formability, and the optimized process range: laser power (285~345W), scanning speed (950~1150mm/s) can gain the workpiece of 9894% relative density with fewer defects of voids and cracks The tensile strength and the yield strength of the workpiece are close to those of the traditional forging and annealing processes The heat dissipation characteristic leads to the difference of the histomorphology of the specimen, and in the stratification direction, columnar crystals directionally solidify The Vickers hardness of the sample increases with the refinement and densification of the structure…”
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Impact of Nanoparticles on Nematic Ordering in Square Wells by M. Slavinec, E. Klemenčič, M. Ambrožič, M. Krašna

“…We demonstrate existence of a rich variety of different nematic structures, including topological defects, which are enabled by presence of appropriate NPs.…”
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