Results 161 to 170 of about 27,432 (269)

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, Volume 200, Issue 10, Page 2331-2337, October 2026.
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

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Study on crease recovery property of warp-knitted jacquard spacer shoe upper material. [PDF]

Sci Rep
Zhang Q, Tu J, Hao J, Peng S.
europepmc   +1 more source

Re‐evaluation of a soft crested Edmontosaurin, with implications for hadrosaurid life appearance and diversity

The Anatomical Record, Volume 309, Issue 10, Page 2636-2655, October 2026.
Abstract Hadrosaurid dinosaurs are generally regarded as “crested” or “non‐crested” depending on the presence or absence of a bony cranial crest. At least one supposedly “non‐crested” hadrosaur is known to have possessed a soft tissue cranial crest (or comb), based on an exceptionally preserved “mummified” specimen. Here we redescribe this specimen and
Henry S. Sharpe, Phil R. Bell, Ian Baylatry, Robin Sissons, Corwin Sullivan   +4 more
wiley   +1 more source

The role of editorial boards in shaping scholarly communication: A large‐scale mapping of their composition and structure

Journal of the Association for Information Science and Technology, Volume 77, Issue 10, Page 1334-1353, October 2026.
Abstract Editorial boards play a central role in shaping scholarly communication by influencing what research is published and how disciplinary boundaries are defined. Despite their importance, large‐scale, systematic evidence on their composition and structure remains limited.
Evangelina Becerra‐Rodero, José Luis Ortega   +1 more
wiley   +1 more source

The developmental mechanics of divergent buckling patterns in the chick gut. [PDF]

Proc Natl Acad Sci U S A
Gill HK, Yin S, Lawlor JC, Huycke TR, Nerurkar NL, Tabin CJ, Mahadevan L.   +6 more
europepmc   +1 more source

Potential and limitations for ETFE‐foils in pneumatically retractable structures

ce/papers, Volume 9, Issue 4-5, Page 27-32, October 2026.
Abstract Rising urban temperatures due to the urban heat‐island effect increase the demand for multifunctional, lightweight façade and roofing systems that span large areas and enable adaptive envelope functions – such as shading and ventilation – to improve climate resilience.
Dominik Runge, Jörg Uhlemann, Natalie Stranghöner   +2 more
wiley   +1 more source

Impaired Motor Function in a Zebrafish Stathmin‐2 Knockout Model

Developmental Neurobiology, Volume 86, Issue 4, October 2026.
ABSTRACT Stathmin‐2 (STMN2) is a microtubule‐associated protein that plays a role in the stability of microtubules in axons of the nervous system of animals. In this study, we generated a novel zebrafish STMN2 knockout (KO) model. STMN2 is represented by two genes in the zebrafish genome: stmn2a and stmn2b.
Tyler J. N. Gurberg, Ziyaan A. Harji, Christian J. Rampal, Joséphine Sacy‐Richer, Amy Wang, Esteban C. Rodríguez, Gary A. B. Armstrong   +6 more
wiley   +1 more source

Submental Approach Robotic‐Assisted Neck Dissection (SARAND) for Minimally Invasive Bilateral Neck Dissection: A Feasibility Cadaver Dissection Study

Head &Neck, Volume 48, Issue 10, Page 2934-2942, October 2026.
ABSTRACT Background Following promising initial results of the robotic‐assisted extended “Sistrunk” approach (RESA) that uses a submental incision to hypopharyngeal and laryngeal tumors, bypassing the base of tongue, we report its further development: submental approach robotic‐assisted neck dissection (SARAND), intended to enable bilateral neck ...
Bartosz P. Wojtera, Karma Lambercy, Avinash Beharry, Ka Hei Suen, Markus Rheinwald, Christian Simon   +5 more
wiley   +1 more source