Results 231 to 240 of about 2,797,849 (300)

Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures. [PDF]

Clin Epigenetics
Koparir A, Kerkhof J, Rzasa J, Metzger E, Bahena Carbajal P, Kolokotronis K, Koparir E, Jelting Y, Hofrichter MAH, Klepper J, König T, Runkel E, Prastyo WE, Deinlein J, Dragicevic Babic N, Spiegler J, Stachelscheid N, Kunstmann E, Haaf T, Sadikovic B, Klopocki E.   +20 more
europepmc   +1 more source

A TLR8 Variant Identified From Whole Exome Sequencing as a Sepsis-Prone Mutation. [PDF]

FASEB Bioadv
Alhamdan F, Gianoli S, Han X, Koutsogiannaki S.   +3 more
europepmc   +1 more source

A Compound Heterozygous Missense Variant in The <i>DNAH5</i> Gene Could Be A Significant Factor in Unexplained Male Infertility: A Case Study. [PDF]

Int J Fertil Steril
Afkari M, Salehi N, Sajadi H, Sabbaghian M, Shahzadeh-Fazeli SA, Amiri-Yekta A.   +5 more
europepmc   +1 more source

Corrigendum to "Genetic risk factors for pneumonia differ by patient subgroup" [eBioMedicine 124 (2026) 106136] DOI: 10.1016/j.ebiom.2026.106136. [PDF]

EBioMedicine
Heikkilä A, Sliz E, Väyrynen S, Reis K, Elnahas AG, Reigo A, Esko T, FinnGen, Estonian Biobank Research Team, Kettunen J, Hautala T.   +10 more
europepmc   +1 more source