Results 41 to 50 of about 9,096 (184)

Rotation capacity of continuous reinforced concrete slab strips revisited

Structural Concrete, EarlyView.
Abstract Rotation capacity is a key characteristic of statically indeterminate reinforced concrete structures, as it (i) enables bending moment redistributions, whether intentionally introduced through optimized reinforcement layouts or arising from unforeseen self‐equilibrated stress states, and (ii) promotes large rotations at failure load, thereby ...
Nathalie Reckinger, Karel Thoma, Walter Kaufmann   +2 more
wiley   +1 more source

Albinism in Natrix tessellata (Serpentes: Natricidae)

Phyllomedusa: Journal of Herpetology, 2020
Albinism in Natrix tessellata (Serpentes: Natricidae). The Dice Snake, Natrix tessellata, varies in color and pattern, and has several color morphs. Except for melanism, color aberrations are quite rare in the species.
Simona Papezikova, Milan Oselsky, Petr Papezik, Daniel Jablonski   +3 more
doaj  

Genetic testing for ocular albinism and oculocutaneous albinism

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular albinism and oculocutaneous albinism.
Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo   +5 more
doaj   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle

Genetics Selection Evolution, 2017
Background Cases of albinism have been reported in several species including cattle. So far, research has identified many genes that are involved in this eye-catching phenotype.
Sophie Rothammer, Elisabeth Kunz, Doris Seichter, Stefan Krebs, Martina Wassertheurer, Ruedi Fries, Gottfried Brem, Ivica Medugorac   +7 more
doaj   +1 more source

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

Unprotected: the consequences of climate change for the health of persons with albinism

BMJ Global Health, 2023
Mary Keogh, Mark T Carew, Antoine Gliksohn, Sethu Mbuli-Robertson, Muluka-Anne Miti-Drummond   +4 more
doaj   +1 more source

Multilingual Digital Search Behavior Reveals Cultural Disparities in Vitiligo Information Needs in Germany

International Journal of Dermatology, EarlyView.
Multilingual vitiligo‐related Google search queries in Germany (October 2019–May 2023) were extracted and thematically coded across German, English, Turkish, Arabic, Russian, and Polish. Relative patterns highlighted language‐specific emphases in treatment information, camouflage, depigmentation, psychosocial burden, and faith/home‐remedy terms ...
Lilian Rauch, Christine Gasteiger, Markus Böhm, Georg Pliszewski, Tilo Biedermann, Alexander Zink   +5 more
wiley   +1 more source

Vernacularizing the Best Interests of the Child: Comparative Insights From Three Legal Systems

Journal of Family Theory &Review, EarlyView.
ABSTRACT The study investigates how the Best Interests of the Child principle in the UN Children's Rights Convention (Article 3) has been adapted in custody disputes in Egypt, Sweden, and Uzbekistan. Although the Convention on the Rights of the Child offers a common normative benchmark, divergent legal cultures shape its domestic meaning: Egypt is ...
Anna Lundberg, Monika Lindbekk, Anna Sonander, Rustamjon Urinboyev   +3 more
wiley   +1 more source

The Situation of Mothers Impacted by Albinism in sub-Saharan Africa: A Video Analysis

Spectrum
Background and Aim: First-hand accounts of human rights violations are increasingly being shared in video format, and researchers are steadily tapping into these mainstream videos as sources of research data. A population group facing stigma, trafficking,
Kiel Mayich, Nazifa Rashid, Cole Siebert, Rebecca Kyeraa Amankona, Adzeglo Tugbe, Emmanuel Osei, Meghann Buyco, Sheryl Reimer-Kirkham, Barbara Astle   +8 more
doaj   +1 more source