Results 161 to 170 of about 615,013 (286)

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

First case report of a unique combination of congenital limb and skeletal anomalies mimicking VACTERL and Gollop-Wolfgang syndromes. [PDF]

Int J Surg Case Rep
Elewee A, Mayo M, Nasani MK, Mokhlalati J, Omar AAS, AlMasri F.   +5 more
europepmc   +1 more source

Antiferroelectric Phase Transitions Under Electric Fields: A Review of Physics and Applications

Interdisciplinary Materials, EarlyView.
Field‐induced phase transitions in antiferroelectric materials, driven by electric field, temperature, or stress, enable diverse applications including energy storage, electrocaloric cooling, and negative capacitance. These transitions are regulated through compositional design, strain engineering, heterostructure, and size effect, providing a unified ...
Dingxin Wang, Ke Xu, Xinying Zhu, Song Liu, Jing Wang, Xi Kong, Letao Yang, Houbing Huang   +7 more
wiley   +1 more source

Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene. [PDF]

Prenat Diagn
Muir CR, Gilmore KL, Singh S, Vora NL.
europepmc   +1 more source

Timing, indications, and outcomes of termination of pregnancy after 20 weeks: A retrospective single‐center cohort study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective This study evaluate the indications, timing, and maternal outcomes of termination of pregnancy (TOP) after 20 weeks of gestation. Methods This single‐center retrospective cohort study included all TOP cases performed after 20 weeks between January 2020 and December 2025 in a tertiary referral center.
Erdem Fadiloglu, Murat Cagan, Mert Eyupoglu, Zeynab Mamtiyeva, Rahiba Salim, Ozgur Deren   +5 more
wiley   +1 more source

Genetic and functional analysis of ZMIZ1 in neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA): insights from muscle cells and signaling pathways. [PDF]

Pediatr Res
Li S, Zhou D, Han Y, Feng C, Lv X, Fu G, Wei X, Wu C, Yu C, Yang Z.   +9 more
europepmc   +1 more source

Duration of a vaginal birth after cesarean section depending on the degree of cervical dilation in the prior cesarean delivery: A retrospective study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective Labor and birth lead to significant immunological and regenerative changes in the uterus, such that multiparous women typically experience faster and more effective labor than primiparous women. In this retrospective study, we examined the influence of labor activity and childbirth progress in the previous pregnancy on the duration ...
N. Mawas, A. Köninger, M. Rauh, I. Abou Tabikh, M. Kappelmeyer, A. Schnabel   +5 more
wiley   +1 more source

Exploring Prenatal Signs of Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal Anomalies (CLOVES) Syndrome: A Case Report and Literature Review. [PDF]

Cureus
Henuzet E, Boon L, Dumitriu D, Peetermans L, Steenhaut P.   +4 more
europepmc   +1 more source

Three‐dimensional hybrid perovskite heterostructure single crystals toward highly efficient x‐ray detectors

InfoMat, EarlyView.
This study presents for the first time a self‐assembled three‐dimensional perovskite heterojunction single crystal with organic cations and Pb coordination, (MHy)2Pb(2)Cl4·Pb(1)Cl2 (MPC). The MPC possesses carriers with different conformations and undergoes an ordered–ordered structural transition as the temperature increases, which ultimately realizes
Hang Li, Ji Qi, Qianwen Guan, Chengmin Ji, Huang Ye, Zhenyue Wu, Chengshu Zhang, Junhua Luo   +7 more
wiley   +1 more source

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center. [PDF]

Sci Rep
Xue H, Yu A, Zhao W, Chen L, Fang R, Ling W, Zhang L, Guo Q, Lin N, Xu L, Huang H.   +10 more
europepmc   +1 more source