Results 211 to 220 of about 43,457 (303)

Problem-, resources- and goals-oriented (PRoGO) approach in psychiatry: illustrated by the case of Ludwig II of Bavaria. [PDF]

Eur Arch Psychiatry Clin Neurosci
Leucht S, Davis JM, Böge K, ElDeeb A, Strube W, Förstl H.   +5 more
europepmc   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Boosting Computational Catalysis and Chemical Reactivity with Artificial Intelligence. [PDF]

J Am Chem Soc
Vogiatzis KD, Corminboeuf C, Nova A, Jorner K, Kästner J, Meuwly M, Schwaller P, Böttcher V, Drosou M, Fako E, Hoppe H, Ivkovic Z, Iwanojko N, Pantazis DA, Schmid SP, Szenes K, Tetenoire A, Reiher M.   +17 more
europepmc   +1 more source

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Clinical Genetics, EarlyView.
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke, Stefan Barakat, Yoann Vial, Laurence Perrin, Sandrine Passemard, Farooq Ahmad, Muhammad Umair, Tobias Haack, Mona Grimmel, Alma Kuechler, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Faisal Zafar, Erum Afzal, Tracy Dudding‐Byth, Guillaume Jouret, Lucas Herissant, Stephanie Efthymiou, Henry Houlden, Marine Legendre, Vincent Michaud   +30 more
wiley   +1 more source

Peristaltic transport and thermodynamic analysis of hybrid nanofluids in porous media using physics-informed neural networks. [PDF]

Discov Nano
Vaseem M, Uddin Z, Upreti H.
europepmc   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, EarlyView.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Analytical modeling of pcm-based cooling system for lithium-ion batteries. [PDF]

Sci Rep
Farajollahi A, Gheshlaghchaei BA, Jalalvand M, Talati F, Vaferi K.   +4 more
europepmc   +1 more source

Debunking the myth of the quintessential resource manager: Precision in actionable science

Conservation Science and Practice, EarlyView.
Science is too often framed as “actionable” for managers without defining either the intended manager or use. This perspective article presents the heuristic of “who, what, when, where, why, how” to help researchers be more precise when describing their actionable science and move beyond generic framings.
Amanda E. Cravens, Nicole M. Herman‐Mercer, Aparna Bamzai‐Dodson, Megan A. Moore, Richard E. W. Berl, Nicholas W. Cole, Oronde O. Drakes, Diamond V. Ebanks, David C. Fulton, Megan S. Jones, Dawn M. Kotowicz, Alex C. McInturff, James R. Meldrum, Kathryn A. Powlen, Aaron D. Russell, Stefan G. Tangen, Emily J. Wilkins   +16 more
wiley   +1 more source

No good Markov strategies for Büchi objectives in countable MDPs. [PDF]

Ann Oper Res
Kiefer S, Mayr R, Shirmohammadi M, Totzke P.   +3 more
europepmc   +1 more source

Current state of medical care for patients with mycosis fungoides and Sézary syndrome at a German university hospital – a cross‐sectional study

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background Studies on the state of medical care for patients with cutaneous T‐cell lymphoma (CTCL) are limited. To date, only secondary data analyses are available for Germany. Patients and Methods Cross‐sectional study conducted over a one‐year recruitment period (01 March 2024 to 28 February 2025) in the dermatological department of a German ...
Inga Hansen‐Abeck, Larissa Kölln, Finn Abeck, Glenn Geidel, Stefan W. Schneider, Nina Booken   +5 more
wiley   +1 more source