Results 61 to 70 of about 4,057 (205)
American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1773-1782, August 2026.ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman +15 more
wiley +1 more source
Emerging Infectious Diseases, 2017 We assessed microbial safety and quality of raw fish sold in Singapore during 2015–2016 to complement epidemiologic findings for an outbreak of infection with group B Streptococcus serotype III sequence type (ST) 283 associated with raw fish consumption.
Man L. Chau +18 more
doaj +1 more source
Sashimi plots for mock, WT-F and ΔICP22 infection at 8 h p.i.
, 2022 For an explanation of sashimi plots see caption to Fig 3. Circular splice junctions are marked in red, linear splice junctions in the same color as read coverage. (PDF)
Adam W. Whisnant (5007887) +7 more
core +1 more source
Sushi and sashimi: the contaminated bacteria and helminthes, the guidelines
Asian Medical Journal and Alternative Medicine, 2015 Sushi and sashimi are the fashionable dishes in Thailand over the last decade. The consumers believe that marine fish and other ingredients are the low calorie food and have various dietaries such as omega-3 polyunsaturated fatty acids, proteins and vitamins.
Prasert Saichua, Amonrat Jumnainsong
openaire +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1719-1724, July 2026.ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi +11 more
wiley +1 more source
Movement Disorders, Volume 41, Issue 7, Page 1704-1715, July 2026.Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer +24 more
wiley +1 more source
Transcriptome‐Based Identification of ZZEF1 and ENTPD5 as Candidate Genes for Dystonia
Movement Disorders, EarlyView.
Alexandra Rudnik +15 more
wiley +1 more source
Journal of Fish Biology, Volume 109, Issue 1, Page 400-449, July 2026.Abstract Knowledge on the ecology and life‐history traits of coastal marine species is vital to inform their conservation and management, especially as their coastal habitats come under increasing threats. However, such data have never been collated for four of the five families in the suborder Syngnathoidei—the close relatives of the better‐studied ...
Syd J. Ascione +3 more
wiley +1 more source
Sashimi plots for total RNA time-courses of WT and Δvhs infection.
, 2022 For an explanation of sashimi plots see caption to Fig 3. Circular splice junctions are marked in red, linear splice junctions in the same color as read coverage. (PDF)
Adam W. Whisnant (5007887) +7 more
core +1 more source
Acta Scientiarum: Technology, 2007 O consumo de pescado tem crescido, seja pela maior consciência dosconsumidores, seja por estratégias de marketing dos governos. Nesse contexto, destaca-se a culinária japonesa, cuja base principal é o pescado.
Leonardo Gadelha Malta de Moura Filho +5 more
doaj