Results 201 to 210 of about 183,311 (355)

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient. [PDF]

Birth Defects Res
Kerkeni N, Kharrat M, Kraoua L, Achour A, Maazoul F, Mrad R, Trabelsi M.   +6 more
europepmc   +1 more source

Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations

Epilepsia, EarlyView.
Abstract Ring chromosome 20 (ring 20) is a rare genetic condition usually presenting as developmental and epileptic encephalopathy. The disease is caused by fusion of the long and short arms of chromosome 20. Patients are symptomatic even if there is no loss of genetic material.
Asma Khamis, Emilia Ricci, Maria Paola Canevini, Lieven Lagae, Kentaro Tokumoto, Yushi Inoue, Tim Buckinx, Allison Watson, Kenneth A. Myers   +8 more
wiley   +1 more source

Characterization of a Familial Goldenhar Syndrome Case Using Whole-Exome Sequencing. [PDF]

Genes (Basel)
Bejaoui Y, Al-Sarraj Y, Al-Hage J, Bitar FF, El Hajj N, Nemer G, Kurban M.   +6 more
europepmc   +1 more source

Whole exome sequencing analysis of Malaysian monozygotic twin suspected with primary immunodeficiency diseases / Hamidah Abdul Ghani [PDF]

, 2019
Abdul Ghani Hamidah
openalex  

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

Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease. [PDF]

J Clin Neurol
Hong EP, Ha EJ, Youn DH, Chung Y, Kim KM, Lee SH, Cho WS, Kang HS, Jeon JP, Kim JE, First Korean Stroke Genetics Association Research (The FirstKSGAR) Study.   +10 more
europepmc   +1 more source

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report [PDF]

, 2017
Amelie T. van der Ven, Shirlee Shril, Hadas Ityel, Asaf Vivante, Jing Chen, Daw‐Yang Hwang, Kristen M. Laricchia, Monkol Lek, Velibor Tasić, Friedhelm Hildebrandt   +9 more
openalex   +1 more source

The Personalisation of Glioblastoma Treatment Using Whole Exome Sequencing: A Pilot Study [PDF]

, 2020
Anne-Marie Garrett, Sarah Lastakchi, Christopher McConville   +2 more
openalex   +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

The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia. [PDF]

Int J Womens Health
Mei Y, Li J, Zhang L, Wei X, Xu Q, Shen C, Qin Y, Zhong Q, Li Y.   +8 more
europepmc   +1 more source