Results 241 to 250 of about 4,959,762 (308)

Phenotypic spectrum of 11p15.5 duplications: parent-of-origin and copy number variant size shape outcomes from Silver-Russell to Beckwith-Wiedemann syndromes. [PDF]

Hum Genomics
Wang C, Zhang H, Wang M, Gao J, Lv Y, Huang J, Pan S, Wu D, Kang B, Hou Q, Liao S.   +10 more
europepmc   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

A Bibliometric and Systematic Review of Quantitative Microbial Risk Assessment in Food Safety (1995-2024). [PDF]

Foods
Orahovac A, Raičević N, Martinović A, Ruppitsch W, Mach RL.   +4 more
europepmc   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

Influence of a Vegan Diet on Child Health and Development: A Scoping Review. [PDF]

Nutr Rev
Brits E, le Grange E.
europepmc   +1 more source

Food Security Outlook for Eastern Africa by 2050: Climate Change Impacts and Population-Driven Demand Gaps. [PDF]

Curr Environ Health Rep
Simane B, Berhane K, Samet J, Oguge O, Atuyambe L, Shah M, Kumie A, Jack D.   +7 more
europepmc   +1 more source

Platelet-Rich Plasma in the Treatment of Knee Osteoarthritis: A Bibliometric Analysis of Global Research Trends. [PDF]

Orthop Rev (Pavia)
Zhou H, Ganti L.
europepmc   +1 more source

Renal angiomyolipoma in pregnancy - A review. [PDF]

Obstet Med
Morton A.
europepmc   +1 more source

GROWTH AND DEVELOPMENT OF NURSING LITERATURE.

Bulletin of the Medical Library Association, 1996
L B, MILLER, E N, RATHBUN
openaire   +1 more source

Controlled synthesis of copper oxide nanoparticles (CuONPs) by the precipitation method and proposition of their growth mechanism.

Nanoscale
Sallem F, Chanéac C, Wagner M, Rataj N, Annabi E, Castillo A, Menjot L, Avellan A.   +7 more
europepmc   +1 more source