Results 171 to 180 of about 225,081 (303)

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling. [PDF]

J Genet Couns
Albert S, Swenerton A, Niles KM, Langlois S, Zambonin JL.   +4 more
europepmc   +1 more source

Augmenting Diagnostic Yield From Genomic Sequencing. [PDF]

Neurol Genet
Wojcik MH, Ganesh V.
europepmc   +1 more source

Whole Exome Sequencing [PDF]

, 2020
openaire   +1 more source

Cross-platform comparison of gene expression-based cancer molecular subtyping reveals discrepancies with exome capture methods. [PDF]

NPJ Precis Oncol
Lee JJ, Aldakkak M, Morrison AB, Thalji SZ, Peng XL, Li Y, Gulley ML, Borazanci EH, Tsai S, Rashid NU, Yeh JJ.   +10 more
europepmc   +1 more source

Proteus syndrome exomes [PDF]

Nature Genetics, 2011
openaire   +1 more source

Clinical Images: Biopsy‐proven hydroxychloroquine‐induced cardiomyopathy in an adolescent with systemic lupus erythematosus

Arthritis &Rheumatology, EarlyView.
Greta Mastrangelo, Deborah M. Levy, Anita Nagy, Aamir Jeewa   +3 more
wiley   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Diagnostic yield of exome and genome sequencing for critically ill pediatric cardiac patients. [PDF]

Transl Pediatr
Onorato AC, Gosselin R, Chaudhari BP, Alvarado C, White P, Garg V, Bigelow AM.   +6 more
europepmc   +1 more source

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings

Epilepsia, EarlyView.
Abstract Objective Genetic testing has become a routine part of clinical epilepsy care. Family history is an indication for genetic testing, but the diagnostic yield, predictors of a genetic diagnosis, and association with familial patterns are not well understood.
Colin A. Ellis, Juliette Copeland, Isabella Velez, Karen L. Oliver, Hannah Shalaby, Aaron Baldwin, Caren Armstrong, Amanda Back, Brianna Berlin, Stacey Cohen, Vishnu Anand Cuddapah, Danielle deCampo, Holly Dubbs, Natalie Ginn, Alicia G. Harrison, Naomi Lewin, Laina Lusk, Eric D. Marsh, Shavonne L. Massey, Pamela Pojomovsky McDonnell, Jillian L. McKee, Xilma Ortiz‐Gonzalez, Anna J. Prentice, Katie Rose Sullivan, Sarah M. Ruggiero, Mark P. Fitzgerald, Ethan M. Goldberg, Ingo Helbig   +27 more
wiley   +1 more source