Results 121 to 130 of about 67,614 (310)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Integration of MOSFET/MIM structures using a CMOS-based technology for pH detection applications with high-sensitivity

, 2012
In this work, we show that by using Metal-Insulator-Metal (MIM) structures integrated in series to the gateof submicron Metal-Oxide-Semiconductor Field-Effect Transistor (MOSFET) devices, highly-sensitive and ultra-lowpower consumption pH sensors can be ...
MARIA TERESA SANZ PASCUAL, Joel Molina Reyes, BERNI MANOLO PEREZ RAMOS, Erick Guerrero Rodríguez, ALFONSO TORRES JACOME, GUILLERMO ESPINOSA FLORES VERDAD   +5 more
core  

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

The Formulation of Titanium - based Metal Feedstocks and the Fabrication of Parts using the Powder Injection Moulding Process

, 2015
Development of a profitable titanium industry for New Zealand will not come about without innovative technologies. Plastic injection moulding has long held a place in NZ manufacturing to produce large quantities of complex parts and holds the key to such
Ewart, Paul Douglas
core  

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Fabrication of lightweight polymer products with excellent mechanical properties using a novel double-sided in-mold decoration combined with fiber-reinforced microcellular injection molding process

Journal of Materials Research and Technology
This paper introduces a novel molding process known as the double-sided in-mold decoration combined with fiber-reinforced microcellular injection molding (DS-IMD/FR-MIM) process.
Shengrui Yu, Kai Wang, Lei Xu, Senzhen Song, Jiangen Yang, Wen Han, Huamin Zhou   +6 more
doaj   +1 more source

The Labour-Market Participation of Highly Skilled Immigrants in Sweden : An Overview

, 2017
This paper provides an overview of the socio-demographic characteristics, labour-market participation and occupational mobility of highly educated immigrants1 in Sweden.
Bevelander, Pieter, Irastorza, Nahikari
core  

Linearity Improvement on MIM Capacitors

, 2011
A study has been carried out to improve metal-insulator-metal (MIM) capacitor's capacitance density and linearity performance. The scopes of the study included single MiM and stack MIM structures.
Swee Hua Tia, Yong Kheng Ang, Tsui Ping Chu, Peng Yang, Evie S. Kho   +4 more
core   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Ordered Ionic‐Liquid Channels Enable Fast Anhydrous Proton Conduction at up to 240°C for Fuel Cells

Angewandte Chemie, EarlyView.
Infiltration of ionic liquids into a composite scaffold comprised of graphene and boron nitride nanosheets functionalised with positively charged polyethyleneimine produces robust proton conducting membranes for the intermediate temperature electrochemical devices.
Mazin Al‐Alawi, Kaiqiang He, Mattia Belotti, Fanmengjing Wang, Jiffin Oommen, Douglas R. MacFarlane, Hoang‐Long Du, Alexandr N. Simonov, Huanting Wang   +8 more
wiley   +2 more sources