Results 191 to 200 of about 178,713 (349)

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

Epilepsia Open, EarlyView.
Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha, Stéphane Auvin, Sándor Beniczky, Andreas Brunklaus, Lieven Lagae, Emilio Perucca, Rainer Surges, Sophie Adler, Christoph Helmstaedter, Floor Jansen, Guido Rubboli, Philippe Ryvlin, Nicola Specchio, Eugen Trinka, Ingmar Blümcke, Valentina de Giorgis, Katarzyna Kotulska, Gaetan Lesca, Masa Malenica, Amy McTague, Rima Nabbout, Rikke Steensbjerre Møller, Sandra Silva Arrieta, Isabella Brambilla, Małgorzata Kosla, Kees Braun, J. Helen Cross, Alexis Arzimanoglou   +27 more
wiley   +1 more source

Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes. [PDF]

Hum Genet
Plengvidhya N, Tangjarusritaratorn T, Teerawattanapong N, Narkdontri T, Innang S, Songlilitchuwong S, Suthon S, Tangjittipokin W.   +7 more
europepmc   +1 more source

Genomic and Immune Correlates of EZH2 Expression and Activity in Olfactory Neuroblastoma

Head &Neck, EarlyView.
ABSTRACT Purpose Olfactory neuroblastoma (ONB) is a rare sinonasal malignancy with limited therapeutic options in the recurrent/metastatic setting; little is known regarding its responsiveness to immunotherapy. Inhibition of enhancer of zeste homolog 2 (EZH2) has been shown to improve T‐cell‐mediated killing and susceptibility to immune checkpoint ...
Elisabetta Xue, Tolulope Adeyelu, Harris Krause, Andrew Elliott, Ranee Mehra, Heloisa Soares, Emil Lou, Ari Vanderwalde, David Spetzler, Dara Bracken‐Clarke, Nyall R. London Jr., James L. Gulley, Charalampos S. Floudas   +12 more
wiley   +1 more source

Whole Exome Sequencing Identifies Novel Homozygous LGI1 Variant Mimicking ADAM22 -Related Pathologies in a Moroccan Family [PDF]

Hinde El Mouhi, Badreddine Elmakhzen, Amina Bouyahyaoui, Mustapha Hida, Karim Ouldim, Laila Bouguenouch, S. Chaouki   +6 more
openalex   +1 more source

Biopsy for Suspicious Oral Lesions: A Review From the American Head and Neck Society‐Cancer Prevention Service

Head &Neck, EarlyView.
ABSTRACT Background Oral cancer is often preceded by a precursor lesion. This presents an opportunity for early diagnosis and intervention. Method of biopsy and interpretation are not well standardized and novel methods of analysis are now being investigated.
James Christopher Gates, Heather Edwards, Alessandro Villa, Nick Purdy, Michael Troka, Peter Varela, Quinn Self, Yingci Liu, Yusuf Dundar, Patricia Joyce Brooks, Dauren Adilbay, Andrew Birkeland, John Cramer   +12 more
wiley   +1 more source

Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma

Haematologica, 2020
Junwon Lee, Borahm Kim, Hyeonah Lee, Heejung Park, Suk Ho Byeon, Jong Rak Choi, Sung Chul Lee, Seung-Tae Lee, Christopher Seungkyu Lee   +8 more
doaj   +1 more source

The Utility of Whole Exome Sequencing in Fetuses With Isolated Increased Nuchal Translucency. [PDF]

Mol Genet Genomic Med
Wang H, Luo C, Geng Q, Xu X, Liu Y.
europepmc   +1 more source

Supplementary Table 4 from Whole-Exome Sequencing Identifies Mutation Profile and Mutation Signature-Based Clustering Associated with Prognosis in Appendiceal Pseudomyxoma Peritonei

Yu‐Lin Lin, Junqi Zhu, Ruiqing Ma, W Meng, Zi-Yue Wang, Xin-Bao Li, Ru Ma, He‐Liang Wu, Hong-Bin Xu, Ying Gao, Yan Li   +10 more
openalex   +1 more source

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families [PDF]

, 2017
Ting Guo, Zhiping Tan, Hua-Mei Chen, Zheng Dong-yuan, Lv Liu, Xingang Huang, Ping Chen, Hong Luo, Yifeng Yang   +8 more
openalex   +1 more source

Rapid recovery after intrathecal dexamethasone in FIRES

Epileptic Disorders, EarlyView.
João Filipe Nico, Ana Rita Fradique, Catarina Teixeira, Rita Moinho, Mariana Leitão Marques, Constança Santos, Joana Afonso Ribeiro, Filipe Palavra, Cristina Pereira   +8 more
wiley   +1 more source