Results 171 to 180 of about 16,675 (221)

Deciphering the clinical and genetic spectrum of early-onset inborn errors of immunity in a Brazilian pediatric cohort. [PDF]

Front Immunol
de Mattos L, Alves MM, Wegbecher NP, Iwamura APD, Barreto ICDP, Assahide MHK, Guimarães FATM, Faddul P, Kuntze G, Chong-Neto HJ, Wagner R, Costa Júnior VHS, Bispo S, Schidlowski L, Prando C.   +14 more
europepmc   +1 more source

First‐Trimester Bilateral Choanal Atresia as a Marker of a De Novo Pathogenic KMT2D Variant Associated With BCAHH Syndrome

Prenatal Diagnosis, Volume 46, Issue 10, Page 1667-1671, September 2026.
Patrik Šimják, Jan Král, Dagmar Rašková, Monika Koudová, David Stejskal   +4 more
wiley   +1 more source

A new sexually dimorphic species of the armoured catfish genus Neoplecostomus (Siluriformes: Loricariidae) from Neotropical Atlantic coastal drainages

Journal of Fish Biology, Volume 109, Issue 3, Page 1737-1746, September 2026.
Abstract A new species of the small‐sized armoured catfish genus Neoplecostomus is described from Neotropical Atlantic coastal drainages, in southeast Brazil. The new species can be readily diagnosed from all congeners by having the first plates of the ventral series reduced in size, rounded and ventrally displaced, resulting in a naked band between ...
Pedro L. C. Uzeda, Tiago C. Pessali, Axel M. Katz, Felipe P. Ottoni, Francisco Langeani, Priscilla C. Silva   +5 more
wiley   +1 more source

Prenatal Presentation of ENPP1‐Associated Generalized Arterial Calcification of Infancy at 15 + 1 Weeks: A Fetal Phenotype–Genotype Report

Prenatal Diagnosis, Volume 46, Issue 10, Page 1676-1679, September 2026.
Ismail Tekesin, Gunter Kerst, Loredana Delle Chiaie, April Dinwiddie, Heinz Gabriel   +4 more
wiley   +1 more source

Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims The HARS1 gene encodes cytoplasmic histidyl‐tRNA synthetase, which catalyzes the ligation of histidine to tRNAHIS in the cytoplasm as an early step in protein biosynthesis and is essential for cell viability. Pathogenic variants in HARS1 have been associated with three phenotypes: autosomal dominant Charcot–Marie–Tooth (CMT)
Christina Del Greco, Allison R. Cale, Karl Haeberlein, Anthony Antonellis, Michael E. Shy, Tiffany Grider   +5 more
wiley   +1 more source

Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to <i>KARS</i> Pathogenic Variants: A Case Report. [PDF]

Neurol Genet
Nagy A, Marshall MS, Frosch MP, Li Y, Walker MA, Eichler FS.   +5 more
europepmc   +1 more source

Spaceborne and spaceborn: Physiological aspects of pregnancy and birth during interplanetary flight

Experimental Physiology, Volume 111, Issue 9, Page 4015-4040, 1 September 2026.
Abstract Crewed interplanetary return missions that are on the planning horizon will take years, more than enough time for initiation and completion of a pregnancy. Pregnancy is viewed as a sequence of processes – fertilization, blastocyst formation, implantation, gastrulation, placentation, organogenesis, gross morphogenesis, birth and neonatal ...
Arun V. Holden
wiley   +1 more source

A Novel Intronic Variant in <i>MED12</i> Associated with a Predominantly Hepatobiliary Phenotype Suggestive of Hardikar Syndrome: A Case Report and Literature Review. [PDF]

Genes (Basel)
El Kahy N, Moukarzel A, Assaf N, Chdid R, Moussallem R, Salem N, Chebly A.   +6 more
europepmc   +1 more source

Estimates of global mortality burden associated with short-term exposure to fine particulate matter (PM2·5)

Background: The acute health effects of short-term (hours to days) exposure to fine particulate matter (PM2·5) have been well documented; however, the global mortality burden attributable to this exposure has not been estimated.
Luke D Knibbs (8673993), Jonathan M Samet (20254413), Yuming Guo (162863), Geoffrey G Morgan (20251716), Michael J Abramson (10176710), Eric Lavigne (3496058), Guy B Marks (13696444), Rongbin Xu (6693566), Alistair Woodward (516511), Jiangning Song (59322), Shanshan Li (114847), Simon Hales (69665), Wenhua Yu (165296), Fay H Johnston (18845800), Tingting Ye (644815), Bin Jalaludin (3488747), Sarah B Henderson (20203026), Jane Heyworth (3559697), Lidia Morawska (1445458), Michelle L Bell (8383131)   +19 more
core  

PM_2.5 induced neurotoxicity and depression unveiling exposure risks and mechanistic insights. [PDF]

iScience
Ma Z, Yau SY.
europepmc   +1 more source