Results 201 to 210 of about 861,250 (295)

The nurturing ability of PVG-RT7b rats is strongly affected by the fetal environment. [PDF]

J Vet Med Sci
Kon H, Ueta H.
europepmc   +1 more source

Sample size – not a one‐size‐fits‐all solution

The Journal of Physiology, EarlyView.
Kathryn L. Gatford
wiley   +1 more source

Genomic prediction of single cross families of perennial ryegrass under two nitrogen managements

The Plant Genome, Volume 19, Issue 4, December 2026.
Abstract The performance of a single cross is determined by the additive effects of the parents and their interactions, which can be estimated through general combining ability (GCA) and specific combining ability (SCA). With genome‐wide marker information, it is possible to predict GCA for new parents and the genetic value of unrealized crosses ...
Divino Rosa dos Santos Junior, Dario Fè, Ingo Lenk, Christian S. Jensen, Torben Asp, Luc Janss, Elesandro Bornhofen   +6 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2409-2419, November 2026.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Genetic context shapes interpretation of AIRE and Notch4 in alopecia areata. [PDF]

JID Innov
Hobbs RP.
europepmc   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

The Potential of Composite Pig Islets-Kidney Xenotransplantation to Cure Diabetes and Renal Failure: A Suggested Modified Approach. [PDF]

Diabetes
Bühler BD, De Taeye S, Kinoshita K, Terashita M, Maenaka A, Lavalla G, Burdorf L, Bottino R, Cooper DKC.   +8 more
europepmc   +1 more source

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk, Bart M. F. Penninx, Annet M. Bosch, Mirjam Langeveld, Gajja S. Salomons, Carla E. M. Hollak, Essential Nutritional Therapy Products for IMDs Consensus Group, Dorothea Möslinger, Saskia Wortmann, David Cassiman, Pavel Ješina, Jiri Zeman, Allan M. Lund, François Feillet, Nazi Tabatadze, Sarah C. Grünert, Anke Schumann, Ute Spiekerkoetter, Ulrike Mütze, Thomas Opladen, Anastasia Skouma, Ina Knerr, Serena Gasperini, Vincenza Gragnaniello, Mariarosa (Marina) Anna Beatrice Melone, Francesca Nardecchia, Alessandro La Rosa, Birutė Tumienė, Margreet Wagenmakers, Terry Derks, Camilla Tøndel, Beata Kieć‐Wilk, Urh Groselj, Amaya Bélanger‐Quintana, Javier De las Heras, Mireia del Toro Riera, Eva Venegas Moreno, Matthias Gautschi, Johannes Häberle, Elaine Murphy   +39 more
wiley   +1 more source

Telomere-to-telomere genome assembly and a pangenome for the rat. [PDF]

Cell Genom
Li K, Ciosek JL, Koren S, Phillippy AM, Zhu Y, Lauer WA, Brooks SY, Bouffard GG, Pickett BD, Dumont BL, Smith ML, Kalbfleisch TS, Doris PA.   +12 more
europepmc   +1 more source

Impacting Rare Diseases Healthcare by Case‐Based Telelearning: Description of the Dutch Pilot Metabolic Diseases ECHO

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Inherited metabolic diseases (IMDs) are individually (ultra)rare but collectively relatively common. The Extension for Community Healthcare Outcomes (ECHO) model has been used worldwide since 2003 to disseminate knowledge and best practices in chronic diseases.
Tirza Boschma, Désirée Y. van Haaften‐Visser, Maaike C. de Vries, Roos Dijkstra, Amaya Zinck, Esmeralda Oussoren, Terry G. J. Derks, Andrea B. Haijer‐Schreuder   +7 more
wiley   +1 more source