Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Koen L. I. van Gassen"'
Autor:
Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)
Abstract Background With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype–phenotype correlation
Externí odkaz:
https://doaj.org/article/8b3afcd6ab86417381f08c0b4a3a4364
Autor:
Vincent Schlesser, Christine Geron, Ronit Chafai, L Bert van den Heuvel, Hilde Laeremans, Emmanuel Scalais, Patricia Borde, Elise Osterheld, Koen L I van Gassen, Linda De Meirleir, Luc Regal, Charlotte Pierron
Publikováno v:
JIMD Reports, Vol 49, Iss 1, Pp 70-79 (2019)
JIMD Reports
JIMD reports, 49 (1
Jimd Reports, 49, 70-79
JIMD Reports, 49(1), 70. Springer Berlin
Jimd Reports, 49, 1, pp. 70-79
JIMD Reports
JIMD reports, 49 (1
Jimd Reports, 49, 70-79
JIMD Reports, 49(1), 70. Springer Berlin
Jimd Reports, 49, 1, pp. 70-79
Intracellular cobalamin metabolism (ICM) defects can be present as autosomal recessive or X-linked disorders. Parenteral hydroxocobalamin (P-OHCbl) is the mainstay of therapy, but the optimal dose has not been determined. Despite early treatment, lon
Autor:
Bart C Jongbloets, Koen L I van Gassen, Anne A Kan, Anneke H O Olde Engberink, Marina de Wit, Inge G Wolterink-Donselaar, Marian J A Groot Koerkamp, Onno van Nieuwenhuizen, Frank C P Holstege, Pierre N E de Graan
Publikováno v:
PLoS ONE, Vol 10, Iss 12, p e0145247 (2015)
Febrile seizures are the most prevalent type of seizures among children up to 5 years of age (2-4% of Western-European children). Complex febrile seizures are associated with an increased risk to develop temporal lobe epilepsy. To investigate short-
Externí odkaz:
https://doaj.org/article/080854a2caa24cb6a62a803239215788