Zobrazeno 1 - 8
of 8
pro vyhledávání: '"David Koolen"'
Autor:
Zain Awamleh, Sanaa Choufani, Dmitrijs Rots, Alexander Dingemans, Juan Dario Ortigoza Escobar, David Koolen, Bert de Vries, Rosanna Weksberg
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101543- (2024)
Externí odkaz:
https://doaj.org/article/3bc851880b414d4c8ea1fd8bd3963197
Autor:
Pauline Burger, Florent Colin, Axelle Strehle, Timothée Mazzucotelli, Nicole Collot, Ariane Bouman, Daphna Landau Prat, David Geneviève, Valentin Ruault, Roseline Caumes, Thomas Smol, Jamal Ghoumid, Joost Kummeling, Charlotte Ockeloen, Tjitske Kleefstra, Pierre Parrend, Amélie Piton, David Koolen, Jean-Louis Mandel
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100699- (2023)
Externí odkaz:
https://doaj.org/article/4b842162beb74c9ea0073327de69ce27
Autor:
Tracy Dudding-Byth, Anne Baxter, Elizabeth G. Holliday, Anna Hackett, Sheridan O’Donnell, Susan M. White, John Attia, Han Brunner, Bert de Vries, David Koolen, Tjitske Kleefstra, Seshika Ratwatte, Carlos Riveros, Steve Brain, Brian C. Lovell
Publikováno v:
BMC Biotechnology, Vol 17, Iss 1, Pp 1-9 (2017)
Abstract Background Massively parallel genetic sequencing allows rapid testing of known intellectual disability (ID) genes. However, the discovery of novel syndromic ID genes requires molecular confirmation in at least a second or a cluster of indivi
Externí odkaz:
https://doaj.org/article/f41c018183714148aa26ab2316eab2a5
Autor:
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman
Publikováno v:
Wellcome Open Research, Vol 3 (2018)
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants.
Externí odkaz:
https://doaj.org/article/c02e7b8508cf4bac9ec09604f83723ec
Publikováno v:
ACS Catalysis. 13:948-973
Autor:
Cedric David Koolen, Laura Torrent, Ayush Agarwal, Olga Meili-Borovinskaya, Natalia Gasilova, Mo Li, Wen Luo, Andreas Züttel
Publikováno v:
ACS nano. 16(8)
Nanoparticles (NPs) have wide applications in physical and chemical processes, and their individual properties (e.g., shape, size, and composition) and ensemble properties (e.g., distribution and homogeneity) can significantly affect the performance.
Speech and language impairment is core in Koolen-de Vries syndrome (KdVS), yet only one study has examined this empirically. Here we define speech, language, and functional/adaptive behaviour in KdVS; while deeply characterising the medical/neurodeve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c33dbdb57050927263061ddbba9424f5
https://doi.org/10.21203/rs.3.rs-1822241/v1
https://doi.org/10.21203/rs.3.rs-1822241/v1
Autor:
Jie Zhang, Thi Ha My Pham, Youngdon Ko, Mo Li, Shuliang Yang, Cedric David Koolen, Liping Zhong, Wen Luo, Andreas Züttel
Publikováno v:
Cell Reports Physical Science. 3:100949
CO-selective metals (e.g., Ag) on Cu catalysts improve the selec-tivity of multi-carbon (C2+) products in electrochemical CO2 reduc-tion. However, the origin of the improvement remains unclear due to the convolution of tandem and interface effects. H