Results 71 to 80 of about 186,640 (311)

Genetic Polymorphisms and QF-PCR Performance Evaluation of 20 Autosomal STR Loci on Chromosomes 13, 18, and 21 in Prenatal Diagnosis Among East Chinese Han Population

The Application of Clinical Genetics
Yingwen Liu,1,2 Jiangyang Xue,1,2 Lulu Yan,1,2 Changshui Chen,2 Shumin Zhao,3 Haibo Li1,2 1The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children’s Hospital of Ningbo University, Ningbo, Zhejiang, 315000, People’
Liu Y, Xue J, Yan L, Chen C, Zhao S, Li H   +5 more
doaj  

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel–Gruber Syndrome 8 in a Non‐Consanguineous Chinese Family

Molecular Genetics & Genomic Medicine
Introduction Meckel‐Gruber syndrome (MKS, OMIM 24,900), also known as Meckel syndrome, is a rare and severe autosomal recessive disorder. The syndrome is typically characterized by a triad of occipital encephalocele, bilateral renal cystic dysplasia, and
Qi Yang, Wei He, Qiang Zhang, Sheng Yi, Xunzhao Zhou, Shujie Zhang, Shang Yi, Qinle Zhang, Jingsi Luo   +8 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

Regulation of cell protrusions by small GTPases during fusion of the neural folds

eLife, 2016
Epithelial fusion is a crucial process in embryonic development, and its failure underlies several clinically important birth defects. For example, failure of neural fold fusion during neurulation leads to open neural tube defects including spina bifida.
Ana Rolo, Dawn Savery, Sarah Escuin, Sandra C de Castro, Hannah EJ Armer, Peter MG Munro, Matteo A Molè, Nicholas DE Greene, Andrew J Copp   +8 more
doaj   +1 more source

Autonomous and non-cell autonomous etiology of ciliopathy associated structural birth defects [PDF]

, 2023
Richard Francis, Jovenal T. San Agustin, Heather L. Szabo‐Rogers, Cheng Cui, Julie A. Jonassen, Thibaut Eguether, John A. Follit, Cecilia Lo, Gregory J. Pazour   +8 more
openalex   +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

CHILDREN WITH BIRTH DEFECTS; A CHALLENGE FOR PUBLIC HEALTH SERVICE

, 2023
C. Gajanayake
openalex   +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

Performance Analysis of Abradable Coating Systems for Aircraft Gas Turbines

Advanced Engineering Materials, EarlyView.
Three CoNiCrAlY/YSZ/MgAl2O4 abradable liner configurations on a nickel‐superalloy are evaluated by thermal‐gradient cycling and incursion tests. Laser ablation of the bondcoat and/or Y2O3‐stabilized ZrO2 (YSZ) intermediate layer increases mechanical interlocking and bonding for thick topcoats.
Hanna Heyl, Daniel Emil Mack, Martin Tandler, Susanne Schrüfer, Robert Vaßen   +4 more
wiley   +1 more source

Solid‐State Diffusion and Intermetallic Phase Formation in Roll‐Bonded Mg–Zn Composites With Kirigami‐Patterned Inlay

Advanced Engineering Materials, EarlyView.
Mg–Zn composites with a thickness of 0.21 mm were fabricated using roll bonding of a kirigami‐patterned Mg alloy inlay within a Zn matrix. Thermal activation following this process led to the formation of tailored intermetallic structures, which provided the composite with enhanced flexural strength.
Yaroslav Frolov, Oleksandr Bobukh, Christian Klose, Florian Nürnberger, Hans Jürgen Maier   +4 more
wiley   +1 more source