Results 241 to 250 of about 125,953 (296)

Clinical and genetic features of a family with multinodular goiter harboring a DICER1 c.2035 A >G variant. [PDF]

Thyroid Res
Guo ML, Hu X, Zhu H, Luo LG, Ma SG.
europepmc   +1 more source

Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa

, 2012
Yun Wang, Liheng Guo, Suping Cai, Meizhi Dai, Qiaona Yang, Wenhan Yu, Naihong Yan, Xiaomin Zhou, Jin Fu, Xinwu Guo, Pengfei Han, Jun Wang, Xuyang Liu   +12 more
openalex   +2 more sources

Co‐occurrence of childhood absence epilepsy and self‐limited focal epilepsy interictal discharges: Differences from childhood absence epilepsy alone

Epileptic Disorders, EarlyView.
Abstract Objective Some children with Childhood Absence Epilepsy (CAE) exhibit focal abnormalities similar to those observed in Self‐Limited Focal Epilepsies of Childhood (SeLFEs). It remains unclear whether this subgroup of patients may present distinct clinical characteristics or prognoses compared to those with CAE and generalized discharges alone ...
Giulia Barbagallo, Giulia Nobile, Maria Grazia Calevo, Giulia Prato, Lino Nobili, Edoardo Canale, Maria Margherita Mancardi   +6 more
wiley   +1 more source

Shared chromatin remodeling mutations drive concurrent rhabdomyosarcoma and leukemia in a pediatric patient. [PDF]

Discov Oncol
Zhao J, Li H, Wang Y, Sun X, Fang Y, Xue Y.   +5 more
europepmc   +1 more source

Fenfluramine's Broader Potential: A Second Notable Electroencephalogram Response in Developmental Epileptic Encephalopathy With Spike‐Wave Activation in Sleep

Annals of the Child Neurology Society, EarlyView.
Abigail Arroyo, Douglas R. Nordli III, Fernando Galan   +2 more
wiley   +1 more source

Diagnostic Yield of Next-Generation Sequencing for Rare Pediatric Genetic Disorders: A Single-Center Experience. [PDF]

Med Sci (Basel)
Stoyanova M, Yahya D, Hachmeriyan M, Levkova M.   +3 more
europepmc   +1 more source

Impaired Copper Metabolism in a Patient With Short Gut and IDEDNIK Syndrome

Annals of the Child Neurology Society, EarlyView.
Stephen Deputy
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Genetic Profiling of Polymicrogyria in a South Indian Cohort. [PDF]

Ann Indian Acad Neurol
Iype M, James J, Surendran MO, Anitha A.
europepmc   +1 more source

Faculty Opinions recommendation of Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

, 2012
Gail E. Herman
openalex   +2 more sources