Results 141 to 150 of about 24,543 (243)

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 ‐Related Noonan Syndrome

Clinical Genetics, Volume 110, Issue 4, Page 502-507, October 2026.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Reduced legacy precipitation decreases microbial community growth efficiency and alters soil organic carbon in a California grassland. [PDF]

Microbiome
Hernandez LK, DiDonato N, Pasa-Tolic L, Chuckran PF, Firestone MK, Sieradzki ET, Yuan MM, Estera-Molina K, Kimbrel J, Dijkstra P, Banfield JF, Pett-Ridge J, Blazewicz SJ.   +12 more
europepmc   +1 more source

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, Volume 110, Issue 4, Page 438-448, October 2026.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

Decoding Brain Development and Function Through GABAergic Inhibitory Neurons. [PDF]

Eur J Neurosci
Batista-Brito R, Mayer C, Paredes M, Silva CG.   +3 more
europepmc   +1 more source

Diagnosis and surgical treatment of four radiographically incomplete, articular, proximal third metatarsal bone fractures

Equine Veterinary Education, Volume 38, Issue 10, Page e721-e728, October 2026.
Summary The objective was to describe the diagnosis, surgical repair and outcome of four radiographically incomplete, articular, proximal third metatarsal bone fractures with an uncommon, dorsomedial–plantarolateral oblique configuration and this is a retrospective analysis of four racehorses presenting for surgical treatment of this uncommon fracture ...
M. J. S. Duggan, I. Wright, A. Campos Schweitzer, F. Rossignol, E. Cillán García, W. Schofield   +5 more
wiley   +1 more source

Awards, keynotes and gender equity in coastal geoscience and engineering: A 50-year perspective. [PDF]

Camb Prism Coast Futur
Wilson K, Lott SG, Anarde K.
europepmc   +1 more source

Trade Realignments and the Need for Integrated Modeling Research in Latin America's Agri‐Food Sector

Agribusiness, Volume 42, Issue 4, Page 2470-2473, Autumn 2026.
Emiliano Lopez Barrera
wiley   +1 more source

Durum Wheat cv. Svevo Reference Genome Rel.2.0: A Comprehensive Tool for Wheat Genomics

Plant Biotechnology Journal, Volume 24, Issue 10, Page 5460-5479, October 2026.
ABSTRACT Advancements in plant genome sequencing and assembly have enabled the production of increasingly accurate and contiguous genome sequences. Here, we present the chromosome‐level assembly of the durum wheat (Triticum turgidum L. ssp. durum, cv. Svevo) reference genome produced using accurate long‐reads, optical mapping and Hi‐C. The new assembly
Elisabetta Mazzucotelli, Cristian Forestan, Gina Zastrow‐Hayes, David Swarbreck, Yael Lev‐Mirom, Emile Cavalet‐Giorsa, Matteo Bozzoli, Anna Maria Mastrangelo, Daniela Marone, Vincent Ranwez, Johanna Girodolle, Victor Llaca, Kevin Fengler, Charlotte Harris, Helena Toegelová, Pavla Navrátilová, Primetta Faccioli, Francesca Desiderio, Ana Paola Valladares, Gemy Kaithakottil, Rachel L. Rusholme‐Pilcher, Manuel Spannagl, Heidrun Gundlach, Klaus F. X. Mayer, Victoria C. Blake, Justin D. Faris, Steven S. Xu, Taner Z. Sen, Eric Yao, Julio Isidro y Sánchez, Chunyi Liu, Muhammad A. Farooq, Sandra Stefanelli, Chiara Cappucci, Leah Oren, Tamar Eilam, Mario Giorgioni, Alessandra Stella, Barbara Lazzari, Massimiliano Lauria, Aldo Ceriotti, Raul Pirona, Elahe Tavakol, Valentyna Klymiuk, Jennifer Ens, Harmeet Singh Chawla, Sean Walkowiak, Nicola Pecchioni, Filippo M. Bassi, Miguel Sanchez‐Garcia, Gabriella Sonnante, Pasquale L. Curci, Giovanni Giuliano, Giuseppe Aprea, Asher Pasha, Agata Gadaleta, Ilaria Marcotuli, Stefania Masci, Francesco Sestili, Samuela Palombieri, Davide Scaglione, Michele Morgante, Hana Šimková, Nicholas J. Provart, Simon G. Krattinger, Curtis J. Pozniak, Nathalie Chantret, Anthony Hall, Assaf Distelfeld, Roberto Tuberosa, Marco Maccaferri, Luigi Cattivelli   +71 more
wiley   +1 more source

Gene expression mapping of conserved GABAergic interneuron markers in developing zebrafish. [PDF]

Front Mol Neurosci
Zhu B, Baraban SC.
europepmc   +1 more source

Assessing the Lagged Regional Economic Output Gaps After the 2015 South India Flood

Risk Analysis, Volume 46, Issue 10, October 2026.
ABSTRACT Natural hazards can adversely impact society, environment, and human well‐being. The development of mitigation strategies is typically based on estimates of economic losses, but such estimates are difficult when high‐resolution post‐disaster data are scarce.
Kehan He, Priti Parikh, Zhifu Mi
wiley   +1 more source