Results 271 to 280 of about 207,257 (328)

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

, 2012
Melanie A. Jones, Bobby Ng, Shruti Bhide, Ephrem Chin, Devin Rhodenizer, Ping He, Marie‐Estelle Losfeld, Miao He, Kimiyo Raymond, Gerard T. Berry, Hudson H. Freeze, Madhuri Hegde   +11 more
openalex   +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

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

Kim HI, DeBoever C, Walter K, Kalantzis G, Li C, Mozaffari SV, Kundu K, Jacobs BM, Mohammadi-Shemirani P, Musolf AM, Davitte JM, Aksit MA, Gafton J, Catalano K, Dawed AY, Graham RR, Guo B, Gupta N, Heng TH, Hunt KA, Iyer V, Langenberg C, Lassen FH, MacArthur DG, Maher ER, Maroteau C, Newman W, O’Rahilly S, Palmer DS, Popov I, Siddiqui M, Simpson M, Spreckley M, Wright J, Genes and Health Research Team, del Angel G, Petrovski S, Holzinger ER, Maranville JC, Addis L, Turner RM, Estrada K, Longerich S, Howson JMM, Jamshidi Y, Fauman EB, Miller MR, Diogo D, Trembath RC, Finer S, Martin HC, van Heel DA.   +51 more
europepmc   +1 more source

Duodenal Foveolar Adenoma: Case Presentation with Whole Exome Sequencing and Review of the Literature.

Pathobiology
Ferenczi Á, Germano S, Afonso J, Kuthi L, Lantos T, Sejben A.   +5 more
europepmc   +1 more source

Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants. [PDF]

Genome Med
Gridina M, Lagunov T, Belokopytova P, Torgunakov N, Nuriddinov M, Nurislamov A, Nazarenko LP, Kashevarova AA, Lopatkina ME, Vasilyev S, Zuev A, Belyaeva EO, Salyukova OA, Cheremnykh AD, Sukhanova NN, Minzhenkova ME, Markova ZG, Demina NA, Stepanchuk Y, Khabarova A, Yan A, Valeev E, Koksharova G, Grigor'eva EV, Kokh N, Lukjanova T, Maximova Y, Musatova E, Shabanova E, Kechin A, Khrapov E, Boyarskih U, Ryzhkova O, Suntsova M, Matrosova A, Karoli M, Manakhov A, Filipenko M, Rogaev E, Shilova NV, Lebedev IN, Fishman V.   +41 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

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

Exome sequencing in Nigerian children with early-onset epilepsy syndromes. [PDF]

Epilepsia Open
Ademuwagun IA, Adam Y, Rotimi SO, Syrbe S, Radtke M, Hentschel J, Lemke JR, Adebiyi E.   +7 more
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

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