Results 191 to 200 of about 36,538 (290)
Genomic Evaluation of Recombination in Small Highly Inbred Beef Cattle Populations
The study characterizes recombination in small beef cattle populations, revealing higher rates in CGC composites compared to inbred Line 1 Herefords. It identifies significant SNP associations linked to recombination across various autosomes, highlighting complex polygenic influences, with implications for genetic diversity and breeding strategies ...
E. Hay, A. S. Ling
wiley +1 more source
3-methylcrotonyl-CoA carboxylase deficiency in a child with developmental regression and delay: call for early diagnosis and multidisciplinary approach. [PDF]
Gulzar MM, Sarani ZA, Tariq M, Knerr I.
europepmc +1 more source
Submission to the Committee on the Ethics of Gene Therapy [PDF]
Joint Ethico-Medical Committee of the Catholic Union of Great Britain and the Guild of Catholic Doctors
core +1 more source
Rare biochemical & genetic conditions: clues for broader mechanistic insights. [PDF]
Mentis AA, Dalamaga M.
europepmc +1 more source
Objective JAK inhibition (JAKi) is effective in seronegative spondyloarthropathy (SpA) spectrum disorders, but Tyk2 inhibition failed in SpA spectrum ulcerative colitis, and tofacitinib showed minimal benefit in Crohn disease, which highlights the complex role for JAK/STAT signaling in different inflammatory processes.
Sami Giryes+14 more
wiley +1 more source
Oncostatin M silence and neopeptide: the value of exploring patients with rare inherited bone marrow failure. [PDF]
Delafontaine S, Meyts I.
europepmc +1 more source
Objective Despite availability of biologics and targeted synthetic disease‐modifying antirheumatic drugs (b/tsDMARDs) to treat rheumatoid arthritis (RA), many patients do not experience optimized disease control. Glucocorticoids are effective but have safety risks.
Frank Buttgereit+13 more
wiley +1 more source
Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions. [PDF]
Gunes D+26 more
europepmc +1 more source