Zobrazeno 1 - 10
of 659
pro vyhledávání: '"Alders, P."'
Autor:
Annelieke R. Müller, Erik Boot, Stijn B. Notermans, Carlo Schuengel, Lidewij Henneman, Martina C. Cornel, Mieke M. van Haelst, Mariëlle Alders, Clara D. M. van Karnebeek, Bas Bijl, Frits A. Wijburg, Agnies M. van Eeghen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Advances in understanding the etiology of intellectual disability (ID) has led to insights in potential (targeted) treatments and personalized care. Implications of ID on health are often complex and require a multidisciplinary ap
Externí odkaz:
https://doaj.org/article/13db67d541484357bc556a2612613591
Autor:
Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie J. Russ-Hall, Amy L. Schneider, Emily S. Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B. Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, Emily V. Walker, Daniel Darnell, Scott R. Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L. Park, Marielle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaetan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L. Tedder, Sachin Gupta, Elizabeth A. Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C. Worley, Jill A. Rosenfeld, Hsiao-Tuan Chao, Undiagnosed Diseases Network, Geoffrey Neale, Gemma L. Carvill, University of Washington Center for Rare Disease Research, Zhaoming Wang, Samuel F. Berkovic, Lynette G. Sadleir, Danny E. Miller, Ingrid E. Scheffer, Bekim Sadikovic, Heather C. Mefford
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
Abstract Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but rem
Externí odkaz:
https://doaj.org/article/56ab879163324f04934308a670c8a49d
Autor:
Sondos Ayyash, Andrew D. Davis, Gésine L. Alders, Glenda MacQueen, Stephen C. Strother, Stefanie Hassel, Mojdeh Zamyadi, Stephen R. Arnott, Jacqueline K. Harris, Raymond W. Lam, Roumen Milev, Daniel J. Müller, Sidney H. Kennedy, Susan Rotzinger, Benicio N. Frey, Luciano Minuzzi, Geoffrey B. Hall
Publikováno v:
IBRO Neuroscience Reports, Vol 16, Iss , Pp 135-146 (2024)
Neural network-level changes underlying symptom remission in major depressive disorder (MDD) are often studied from a single perspective. Multimodal approaches to assess neuropsychiatric disorders are evolving, as they offer richer information about
Externí odkaz:
https://doaj.org/article/771e6395e0174ac6abab9d6595cdd966
Autor:
Sadegheh Haghshenas, Hidde J. Bout, Josephine M. Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia A. Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien van Gils, Anna C.E. Hurst, Frank J. Kaiser, Didier Lacombe, Antonio F. Martinez-Monseny, Patricia Fergelot, Fabíola P. Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos-Simarro, Brittany N. Simpson, Mariëlle Alders, Stephen P. Robertson, Bekim Sadikovic, Leonie A. Menke
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100337- (2024)
Externí odkaz:
https://doaj.org/article/517d9e08a39d40259779aac3fa7232af
Autor:
Kate Wingett, Robyn Alders
Publikováno v:
Frontiers in Sustainable Food Systems, Vol 8 (2024)
To achieve sustainable development, United Nation members have agreed to reduce food loss along the pre-consumer food supply chain. Food loss and waste is a significant challenge facing Australia and the world, with an estimated one third of all food
Externí odkaz:
https://doaj.org/article/772b44c914a74431964467e9d11f17d0
Publikováno v:
Frontiers in Communication, Vol 9 (2024)
This community case study investigates the establishment of school gardens in Kenya and Papua New Guinea (PNG), focussing on engagement and participation. The gardens are intersectional interventions addressing education, health and nutrition, food s
Externí odkaz:
https://doaj.org/article/864aec0205c841f78bf1bae0ef7d5498
Publikováno v:
Frontiers in Public Health, Vol 12 (2024)
IntroductionThe COVID-19 pandemic had a negative impact on the number of solid organ transplantations. After a global decline of 16% in 2020, their numbers subsequently returned to pre-pandemic levels. In contrast, numbers in Germany remained almost
Externí odkaz:
https://doaj.org/article/1d7dffc6b8ef44aa9b24dc52873be357
Autor:
Alders Paliling, Muh Nurtanzis Sutoyo
Publikováno v:
Ilkom Jurnal Ilmiah, Vol 15, Iss 2, Pp 326-334 (2023)
Tuition payments at State Universities (PTN) use a Single Tuition Fee (UKT) payment system. It has been implemented to make it easier for students to pay their tuition. The UKT system is divided into several groups starting from the UKT group I to VI
Externí odkaz:
https://doaj.org/article/06aa36011a0f4691be3d2ada714c0629
Autor:
Fulgensius Atin, Alyssa Claudia Valerie Gunawan, Widhitomo Widhitomo, Alders Allen Kusa Nitbani
Publikováno v:
JBN (Jurnal Bedah Nasional), Vol 7, Iss 2, Pp 38-44 (2023)
Tujuan: Untuk mendeskripsikan hasil EGD pada pasien dispepsia di RSUD Prof. Dr. W. Z. Johannes Kupang. Metode: Penelitian ini merupakan studi deskriptif kuantitatif cross-sectional. Penelitian ini menggunakan data sekunder dari rekam medis. Populasi
Externí odkaz:
https://doaj.org/article/4cfd35063f934bdab21b8387042baf21
Autor:
P.J. van der Sluijs, M. Gösgens, A.J.M. Dingemans, P. Striano, A. Riva, C. Mignot, A. Faudet, G. Vasileiou, M. Walther, S.A. Schrier Vergano, M. Alders, F.S. Alkuraya, I. Alorainy, H.S. Alsaif, B. Anderlid, I. Bache, I. van Beek, M. Blanluet, B.W. van Bon, T. Brunet, H. Brunner, M.L. Carriero, P. Charles, N. Chatron, E. Coccia, C. Dubourg, R.K. Earl, E.E. Eichler, L. Faivre, N. Foulds, C. Graziano, A.M. Guerrot, M.O. Hashem, S. Heide, D. Heron, S.E. Hickey, S.M.J. Hopman, A. Kattentidt-Mouravieva, J. Kerkhof, J.S. Klein Wassink-Ruiter, E.C. Kurtz-Nelson, K. Kušíková, M. Kvarnung, F. Lecoquierre, G.S. Leszinski, L. Loberti, P.L. Magoulas, F. Mari, I. Maystadt, G. Merla, J.M. Milunsky, S. Moortgat, G. Nicolas, M.O.’ Leary, S. Odent, J.R. Ozmore, K. Parbhoo, R. Pfundt, M. Piccione, A.M. Pinto, B. Popp, A. Putoux, H.L. Rehm, A. Reis, A. Renieri, J.A. Rosenfeld, M. Rossi, E. Salzano, P. Saugier-Veber, M. Seri, G. Severi, F.M. Sonmez, G. Strobl-Wildemann, K.E. Stuurman, E. Uctepe, H. Van Esch, G. Vitetta, B.B.A. de Vries, D. Wahl, T. Wang, P. Zacher, K.R. Heitink, F.G. Ropers, D. Steenbeek, T. Rybak, G.W.E. Santen
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101873- (2024)
Purpose: ARID1B is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been described, which limits our understanding of the disease’s natural history and
Externí odkaz:
https://doaj.org/article/a69068b027154c3c8fb3c081422af42c