Results 181 to 190 of about 447,257 (306)

Anesthesiology Safety in Morocco: A Synthesis of Three Studies Towards Integrated Multidisciplinary Collaboration. [PDF]

Cureus
Harfaoui W, Alilou M, El Adib AR, Lekehal M, Bounsir A, Belyamani L, Obtel M.   +6 more
europepmc   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Case Report: A case of neonatal osteogenesis imperfecta: navigating critical care and early fracture management through multidisciplinary collaboration. [PDF]

Front Pediatr
Xie H, He F, Wu F, Xu W, Li N, He X.
europepmc   +1 more source

Influence of Early Multidisciplinary Collaboration on Prevention of ICU-Acquired Weakness in Critically Ill Patients. [PDF]

Dis Markers, 2022
Wang B, He X, Tian S, Feng C, Feng W, Song L.   +5 more
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Multidisciplinary collaboration to improve neonatal kidney health. [PDF]

Nat Rev Nephrol
Charlton JR, Selewski DT, Harer MW, Askenazi DJ, Starr MC, Guillet R, Board of the Neonatal Kidney Collaborative.   +6 more
europepmc   +1 more source

Health research in the Syrian conflict: opportunities for equitable and multidisciplinary collaboration. [PDF]

J Public Health (Oxf), 2022
Ekzayez A, Olabi A, Douedari Y, Meagher K, Bowsher G, Farhat B, Patel P.   +6 more
europepmc   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Bottom‐Up Coacervate‐Based Artificial Cells: Integrating Cellular Hallmarks into Complex Life‐Like Systems

Angewandte Chemie, EarlyView.
Current interest in artificial cell research underscores its potential to deepen our understanding of life's fundamental processes. This review highlights advances in bottom‐up coacervate‐based artificial cell engineering via combined integration of cellular hallmarks.
Arjan Hazegh Nikroo, Angshuman Das, Madelief A. M. Verwiel, Jan C. M. van Hest   +3 more
wiley   +2 more sources

Advancing Research on Medical Image Perception by Strengthening Multidisciplinary Collaboration. [PDF]

JNCI Cancer Spectr, 2022
Treviño M, Birdsong G, Carrigan A, Choyke P, Drew T, Eckstein M, Fernandez A, Gallas BD, Giger M, Hewitt SM, Horowitz TS, Jiang YV, Kudrick B, Martinez-Conde S, Mitroff S, Nebeling L, Saltz J, Samuelson F, Seltzer SE, Shabestari B, Shankar L, Siegel E, Tilkin M, Trueblood JS, Van Dyke AL, Venkatesan AM, Whitney D, Wolfe JM.   +27 more
europepmc   +1 more source