Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Gijs WE Santen"'
Autor:
Anne Hebert, Annet Simons, Janneke HM Schuurs-Hoeijmakers, Hans JPM Koenen, Evelien Zonneveld-Huijssoon, Stefanie SV Henriet, Ellen JH Schatorjé, Esther PAH Hoppenreijs, Erika KSM Leenders, Etienne JM Janssen, Gijs WE Santen, Sonja A de Munnik, Simon V van Reijmersdal, Esther van Rijssen, Simone Kersten, Mihai G Netea, Ruben L Smeets, Frank L van de Veerdonk, Alexander Hoischen, Caspar I van der Made
Publikováno v:
eLife, Vol 11 (2022)
Background: De novo variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of immunity (IEI). Methods: This study explored the potential added value o
Externí odkaz:
https://doaj.org/article/1943927502a7424bb65899a7d0d2b45e
Autor:
Youssef Elhaji, Tessa M.A. van Henten, Claudia A.L. Ruivenkamp, Mathew Nightingale, Gijs WE Santen, Lydia E. Vos, Peter R. Hull
Publikováno v:
JID Innovations, Vol 1, Iss 3, Pp 100022- (2021)
Basan syndrome is an autosomal dominant genodermatosis characterized by congenital adermatoglyphia, transient congenital facial milia, neonatal acral bullae, and absent or reduced sweating. Basan syndrome is rare and has been reported in only 10 kind
Externí odkaz:
https://doaj.org/article/c088cd670cde426bb7668ad2ac3a1bc6
Autor:
Cemre Celen, Jen-Chieh Chuang, Xin Luo, Nadine Nijem, Angela K Walker, Fei Chen, Shuyuan Zhang, Andrew S Chung, Liem H Nguyen, Ibrahim Nassour, Albert Budhipramono, Xuxu Sun, Levinus A Bok, Meriel McEntagart, Evelien F Gevers, Shari G Birnbaum, Amelia J Eisch, Craig M Powell, Woo-Ping Ge, Gijs WE Santen, Maria Chahrour, Hao Zhu
Publikováno v:
eLife, Vol 6 (2017)
Sequencing studies have implicated haploinsufficiency of ARID1B, a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder (O'Roak et al., 2012), intellectual disability (Deciphering Developmental Disorders
Externí odkaz:
https://doaj.org/article/ed40f28284084f4c913b487a3f35a670
Autor:
Anne Hebert, Annet Simons, Janneke HM Schuurs-Hoeijmakers, Hans JPM Koenen, Evelien Zonneveld-Huijssoon, Stefanie SV Henriet, Ellen JH Schatorjé, Esther PAH Hoppenreijs, Erika KSM Leenders, Etienne JM Janssen, Gijs WE Santen, Sonja A de Munnik, Simon V van Reijmersdal, Esther van Rijssen, Simone Kersten, Mihai G Netea, Ruben L Smeets, Frank L van de Veerdonk, Alexander Hoischen, Caspar I van der Made
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f481862f12972296cd04bdeb05599e05
https://doi.org/10.7554/elife.78469.sa2
https://doi.org/10.7554/elife.78469.sa2
Autor:
Youssef, Elhaji, Tessa M A, van Henten, Claudia A L, Ruivenkamp, Mathew, Nightingale, Gijs We, Santen, Lydia E, Vos, Peter R, Hull
Publikováno v:
JID Innovations
Basan syndrome is an autosomal dominant genodermatosis characterized by congenital adermatoglyphia, transient congenital facial milia, neonatal acral bullae, and absent or reduced sweating. Basan syndrome is rare and has been reported in only 10 kind