Results 241 to 250 of about 1,021,105 (352)

Role of Genes in Dens Invaginatus: A Whole Exome Sequencing Study. [PDF]

Int J Clin Pediatr Dent
Grace M, Aarthi J, Elangovan A, Chenchugopal M, Gopalakrishnan S.   +4 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Exome Sequencing Uncovers Genetic Drivers of Multiple Sclerosis in a Multiplex Family. [PDF]

Genes (Basel)
Lintas C, Bonora S, Marabotti A, Tabolacci C, Scattoni ML, Capone F, Rossi M, Di Lazzaro V, Gurrieri F.   +8 more
europepmc   +1 more source

Searching for BRCA3 by exome sequencing

Hereditary Cancer in Clinical Practice, 2012
Makunin I, Stark M, Gartside M, Chenevix-Trench G   +3 more
doaj   +1 more source

Data Sheet 6_Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).xls

Ruohao Wu (15268735), Xiangyang Luo (3540905), Zhe Meng (464162), Wenting Tang (2627902), Liyang Liang (3446660)   +4 more
openalex   +1 more source

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

, 2011
Iñaki Comino‐Méndez, Francisco Javier Gracia-Aznárez, Francesca Schiavi, Iñigo Landa, Luis J. Leandro‐García, Rocío Letón, Emiliano Honrado, Rocío Ramos‐Medina, Daniela Caronia, Guillermo Pita, Álvaro Gómez-Graña, Aguirre A. de Cubas, Lucía Inglada‐Pérez, Agnieszka Maliszewska, Elisa Taschin, Sara Bobisse, Giuseppe Pica, Paola Loli, Rafael Hernández-Lavado, José Ángel Díaz, Mercedes Gómez‐Morales, Anna González‐Neira, Giovanna Roncador, Cristina Rodríguez‐Antona, Javier Benı́tez, Massimo Mannelli, Giuseppe Opocher, Mercedes Robledo, Alberto Cascón   +28 more
openalex   +2 more sources

Identification of Novel TTN Mutations in Three Chinese Familial Dilated Cardiomyopathy Pedigrees by Whole Exome Sequencing

, 2020
Ying Peng, Jinxin Miao, Yafei Zhai, Guangming Fang, Chuchu Wang, Yaohe Wang, Xiaoyan Zhao, Jianzeng Dong   +7 more
openalex   +1 more source

Supplementary files to: A girl with Bloom syndrome and a unique combination of phenotype-modifying genetic hits: a lesson from trio-based whole-exome sequencing

, 2022
Markéta Wayhelová
openalex   +1 more source

Predictors of etiology and drug resistance in children with new‐onset focal seizures

Epilepsia Open, EarlyView.
Abstract Objective To examine the clinical features of new‐onset focal seizures in children and investigate clinical associations and predictors of underlying etiology and drug resistance. Methods Data were gathered from The Children's Hospital at Westmead admissions for patients aged 1 month to 18 years who presented with new‐onset focal seizures ...
Byoung Chan Lee, Russell C. Dale, Elizabeth H. Barnes, Shekeeb S. Mohammad, Sachin Gupta, Chong Wong, Deepak Gill, Kavitha Kothur   +7 more
wiley   +1 more source