Results 21 to 30 of about 4,336 (177)

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

Amniotic band syndrome and limb body wall complex in Europe 1980–2019

American Journal of Medical Genetics Part A, Volume 191, Issue 4, Page 995-1006, April 2023., 2023
Abstract Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019 and to describe the spectrum of congenital anomalies.
Jorieke E. H. Bergman, Ingeborg Barišić, Marie‐Claude Addor, Paula Braz, Clara Cavero‐Carbonell, Elizabeth S. Draper, Luis J. Echevarría‐González‐de‐Garibay, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsøyr, Jennifer J. Kurinczuk, Anna Latos‐Bielenska, Karen Luyt, Danielle Martin, Carmel Mullaney, Vera Nelen, Amanda J. Neville, Mary T. O'Mahony, Isabelle Perthus, Anna Pierini, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Florence Rouget, Gerardine Sayers, Bruno Schaub, Sarah Stevens, David Tucker, Christine Verellen‐Dumoulin, Awi Wiesel, Erica H. Gerkes, Annie Perraud, Maria A. Loane, Diana Wellesley, Hermien E. K. de Walle   +35 more
wiley   +1 more source

Combustion characteristics of hydrogen in a noble gas compression ignition engine

Energy Reports, 2021
Hydrogen eliminates carbon emissions from compression ignition (CI) engines, while noble gases eliminate nitrogen oxide (NOx) emissions by replacing nitrogen. Noble gases can increase the in-cylinder temperature during the compression stroke due to their
Norhidayah Mat Taib, Mohd Radzi Abu Mansor, Wan Mohd Faizal Wan Mahmood   +2 more
doaj   +1 more source

Color Evaporation and Elastic $\Upsilon$ Photoproduction at DESY HERA [PDF]

, 2001
The diffractive photoproduction of vector mesons is usually described considering the two-gluon (Pomeron) exchange, non-diagonal parton distributions and the contribution of the real part to the cross section.
A. D. Martin, A. Edin, C. Adloff, C. B. Mariotto, E. Braaten, G. A. Schuler, H. Abramowicz, J. F. Amundson, J. F. Gunion, L. Frankfurt, L. Frankfurt, L. N. Epele, M. B. Gay Ducati, M. B. Gay Ducati, M. G. Ryskin, M. G. Ryskin, M. Gluck, P. Breitweg, R. Enberg, R. Gavai, S. J. Brodsky, V. P. Gonçalves, X. D. Ji   +22 more
core   +1 more source

Numerical Simulations of Pre-Chamber Combustion in an Optically Accessible RCEM [PDF]

SAE Technical Paper Series, 2019
<div class="section abstract"><div class="htmlview paragraph">In this work, numerical simulations of an automotive-sized scavenged pre-chamber mounted in an optically-accessible rapid compression-expansion machine (RCEM) have been carried out using two different turbulence models: Reynolds-Averaged Navier-Stokes (RANS) and Large-Eddy ...
Bolla, Michele, Shapiro, Evgeniy, Tiney, Nick, Kyrtatos, Panagiotis, Kotzagianni, Maria, Boulouchos, Konstantinos   +5 more
openaire   +2 more sources

Care experiences of older people with mental health needs and their families in emergency medical services settings

International Journal of Older People Nursing, Volume 18, Issue 1, January 2023., 2023
Abstract Background There are challenges to person‐centred care provision in Emergency Medical Services (EMS) settings. The environment is often busy and noisy which can influence the experience of older people and their carer/partners when they attend emergency departments. Older people with mental health needs are a vulnerable group of people who are
Deborah Goode, Assumpta Ryan, Vidar Melby, Paul Slater   +3 more
wiley   +1 more source

Study on Relation between Spray Characteristics in Near-Field Region and Characteristics of Diesel Combustion in High Boosted Surrounding Gas

International Journal of Automotive Engineering, 2021
The diesel engine commonly introduces high boost pressure to achieve high engine efficiency and reduce soot emission. This extra air is supposed to significantly influence mixing process and improve combustion efficiency.
Dittapoom Shinabuth, Hidenori Kosaka
doaj   +1 more source

Underpinning Terroir with Data: Integrating Vineyard Performance Metrics with Soil and Climate Data to Better Understand Within‐Region Variation in Marlborough, New Zealand

Australian Journal of Grape and Wine Research, Volume 2023, Issue 1, 2023., 2023
Background and Aims. Previous work in Australia has demonstrated the value of data‐driven approaches to terroir analysis but, like other terroir research, focussed predominantly on the natural resources (soils, topography, and climate) on which winegrowing depends. In only very few cases have metrics of production performance also been considered.
R. G. V. Bramley, J. Ouzman, A. P. Sturman, G. J. Grealish, C. E. M. Ratcliff, M. C. T. Trought, Andrew Hall   +6 more
wiley   +1 more source

Ignition and combustion characteristics of diesel piloted ammonia injections

Fuel Communications, 2022
Ammonia is considered a potential carbon-free alternative to fossil fuels. However, its unfavorable combustion characteristics and propensity to form fuel NOx pose a challenge for its use as fuel for internal combustion engines.
Valentin Scharl, Thomas Sattelmayer
doaj   +1 more source

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy

American Journal of Medical Genetics Part A, Volume 188, Issue 9, Page 2834-2849, September 2022., 2022
Abstract Pleiotropy is defined as the phenomenon of a single gene locus influencing two or more distinct phenotypic traits. However, nicotinamide adenine dinucleotide (NAD+) deficiency through diet alone can cause multiple or single malformations in mice.
Paul R. Mark
wiley   +1 more source