Results 71 to 80 of about 448,876 (293)

A novel variant in NSUN2 causes intellectual disability in a Chinese family

BMC Medical Genomics
NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5), is an autosomal recessive disorder that is characterized by intellectual disability (ID), postnatal growth retardation, dysmorphic facies, microcephaly, short ...
Qi Yang, Qiang Zhang, Zailong Qin, Shang Yi, Jingsi Luo   +4 more
doaj   +1 more source

Merging evans syndrome with mucopolysaccharidosis type II: a case report

Frontiers in Pediatrics
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage metabolic disorder caused by pathogenic mutations in the iduronate-2-sulfatase (IDS) gene. Herein, we report the case of a 2-year-old male patient diagnosed with concurrent
Xinrui Wang, Jing Zhang, Yanhui Tang, Chunyan Liu, Peng Hu, You Yang, Hongying Chen   +6 more
doaj   +1 more source

Characterization of Defect Distribution in an Additively Manufactured AlSi10Mg as a Function of Processing Parameters and Correlations with Extreme Value Statistics

Advanced Engineering Materials, EarlyView.
Predicting extreme defects in additive manufacturing remains a key challenge limiting its structural reliability. This study proposes a statistical framework that integrates Extreme Value Theory with advanced process indicators to explore defect–process relationships and improve the estimation of critical defect sizes. The approach provides a basis for
Muhammad Muteeb Butt, Varma Kvvssn, Hossein Laieghi, Zia Uddin, Peyman Ansari, E. Kıvanç Sadak, Can Barış Toprak, Hüseyin Kızıl, Enrico Salvati   +8 more
wiley   +1 more source

Experimental Evaluation of 100Cr6 Steel Microindented Surfaces Under Lubricated Nonconformal Point Contacts

Advanced Engineering Materials, EarlyView.
The tribological behavior of 100Cr6 steel spheres textured via Vickers microindentation is evaluated under lubricated sliding by varying both dimple size and density. Fine and dense textures significantly reduce friction across all lubrication regimes, while large dimples increase it.
Farideh Davoodi, Pasquale Guglielmi, Gianfranco Palumbo, Giuseppe Carbone   +3 more
wiley   +1 more source

Risk factors and demographics for microtia in South America: a case-control analysis [PDF]

, 2013
BACKGROUND: The etiopathogenesis of microtia is still unknown in the majority of the cases, particularly for individuals presenting with isolated microtia.
Castilla, Eduardo Enrique, Dutra, Maria da Graça, Luquetti, Daniela, López Camelo, Jorge Santiago, Saltzman, Babette S.   +4 more
core   +1 more source

On the Lightweight Potential of Laser Additive Manufactured NiTi Triply Periodic Minimal Sheet Lattices

Advanced Engineering Materials, EarlyView.
This study explores the lightweight potential of laser additive‐manufactured NiTi triply periodic minimal surface sheet lattices. It systematically investigates the effects of relative density and unit cell size on surface quality, deformation recovery, compression behavior, and energy absorption.
Haoming Mo, Shuo Qu, Shiming Gao, Xu Song   +3 more
wiley   +1 more source

Case Report: A rare pediatric case of hepatitis B virus infection with acute disseminated encephalomyelitis/Guillain–Barré syndrome spectrum diseases

Frontiers in Pediatrics
A 12-year-old girl with convulsions was incidentally found to be infected with hepatitis B virus(HBV), with HBVdeoxyribonucleic acid (DNA) and HBsAg positivity in the cerebrospinal fluid.
Yingxue Li, Dongxu Hu, Xing Shen, Xiaoyan Mao   +3 more
doaj   +1 more source

Vangl2 disruption alters the biomechanics of late spinal neurulation leading to spina bifida in mouse embryos

Disease Models & Mechanisms, 2018
Human mutations in the planar cell polarity component VANGL2 are associated with the neural tube defect spina bifida. Homozygous Vangl2 mutation in mice prevents initiation of neural tube closure, precluding analysis of its subsequent roles in ...
Gabriel L. Galea, Oleksandr Nychyk, Matteo A. Mole, Dale Moulding, Dawn Savery, Evanthia Nikolopoulou, Deborah J. Henderson, Nicholas D. E. Greene, Andrew J. Copp   +8 more
doaj   +1 more source

Al–Cu Composite Casting of Laser‐Deoxidized Copper: Bonding, Interfacial Chemistry, and Thermal Conductivity

Advanced Engineering Materials, EarlyView.
This study investigates laser‐based oxide removal of Cu inserts in oxygen‐free conditions and examines long‐term oxidation kinetics and surface chemistry under different atmospheres via X‐ray photoelectron spectroscopy. Al–Cu compound casting with differently oxidized surfaces is performed, and intermetallic phase formation, morphology, and thermal ...
Timon Steinhoff, Finn‐Lennard Janthur, Sascha Zimmermann, Sarah Seffer, Jörg Hermsdorf, René Gustus, Ludger Overmeyer, Wolfgang Maus‐Friedrichs, Hans Jürgen Maier, Christian Klose   +9 more
wiley   +1 more source

Association of IRX6 rs6499755 and HAAO rs3816183 Polymorphisms With Hypospadias Susceptibility in Northern Chinese Han Population

Genetics Research
Conclusions: IRX6 rs6499755 and HAAO rs3816183 polymorphisms were associated with hypospadias in Chinese Northern Han, and there is a potential interaction between IRX6 rs6499755 and HAAO rs3816183 affecting the risk of hypospadias.
Nan Liu, Yuping Yu, Ziying Chen, Jianbo Shu, Xiaofang Chen, Guodong Xu, Chunquan Cai   +6 more
doaj   +1 more source