Results 341 to 350 of about 133,619 (388)

Effects of α-Ketoglutarate Peripartum Supplementation on Reproductive, Lactational, Productive and Immunological Outcomes in Dairy Cows. [PDF]

Animals (Basel)
Wang P, Hu X, Shan X, Gao J, Guo F, Wang B, Liu G.   +6 more
europepmc   +1 more source

MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Effects of increasing the dietary contents of metabolizable energy and protein during the peripartum period on mammary gland development in Sistani goats. [PDF]

Sci Rep
Dirandeh E, Ansari-Pirsaraei Z, Teimouri A, Dadashpour N, Thatcher WW.   +4 more
europepmc   +1 more source

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown, Matthew Bower, Matthew Schomaker, Jessica Goldstein, Jeanine Jarnes, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

Birth of a Healthy Monozygotic Twin Foal with Hydrops and a Dead Co-Twin. [PDF]

Vet Sci
Peere S, Van den Branden E, Broothaers K, Polfliet E, Smits K, Govaere J.   +5 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT HNRNPU‐related neurodevelopmental disorder (HNRNPU‐NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be ...
A. K. O. Hodgson, L. Baxandall, D. Aiyedun, A. Li, P. Y. B. Au, J. M. Bain, M. A. Gillentine, H. Goel, A. D. Kline, C. L. Ricupero, R. Sánchez‐Carpintero, E. P. Seward, R. Sidlow, S. A. Wilson, M. Balasubramanian   +14 more
wiley   +1 more source

Changes in feeding behavior, milk yield, serum indexes, and metabolites of dairy cows in three weeks postpartum. [PDF]

Sci Rep
Liu N, Qi J, An X, Wang Y, Wang B, Li X, Zhang Z, Huo X.   +7 more
europepmc   +1 more source

Beyond the Extra X and Y Chromosome: The Contribution of Familial Risk for Psychopathology to the Neurodevelopmental Phenotype of Children With Sex Chromosome Trisomy

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Individuals with an extra X or Y chromosome (sex chromosome trisomy or SCT) have an increased risk for symptoms of psychopathology and neurocognitive dysfunction. In this study, we evaluated the contribution of family history (FH) of neuropsychiatric or neurocognitive disorders to the phenotype of SCT. One hundred and six children with SCT and
Sophie van Rijn, Kimberly Kuiper, Hanna Swaab   +2 more
wiley   +1 more source

The Interplay between Oxidative Stress and Fatty Acids Profile in Romanian Spotted Cows with Placental Retention. [PDF]

Vet Sci
Andrei S, Rafa H, Oroian I, Cozma OM, Morohoschi AG, Dumitraș DA, Dulf F, Ștefănuț CL.   +7 more
europepmc   +1 more source

Individual variation in breeding phenology and postnatal development in northern bats (Eptesicus nilssonii). [PDF]

Ecol Evol
Fjelldal MA, van der Kooij J.
europepmc   +1 more source