Results 161 to 170 of about 178,485 (305)

Identification of causative gene mutation in an Iranian family with coloboma and nephropathy using whole exome sequencing

, 2022
Emran Esmaeilzadeh, Zhila Ghaderi, Arman Moradi, Hamid Reza Khorram Khorshid   +3 more
openalex   +2 more sources

SAT-574 Whole Exome Sequencing Identifies Several Variants Associated with Immune Deficiency, Inflammasomopathy and Non-Ischemic Dilated Cardiomyopathy in a Complex Case of Acquired Generalized Lipodystrophy [PDF]

, 2020
Marjorie Azevedo Jales Brandao, Maria Cristina Foss‐Freitas, Barış Akıncı, Mark Hannibal, Kelly Walkovich, Elif A Oral   +5 more
openalex   +1 more source

A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain

Epilepsia, EarlyView.
Abstract Brain development and subsequent brain function are highly sensitive to genetic mutations, which can result in severe neurodevelopmental malformations. Alterations in PTEN signaling cause a spectrum of developmental malformations and neurological diseases including epilepsy.
Franziska Fazekas, Amit Haboosheh, Bernhard Hennebichler, Thomas Roetzer‐Pejrimovsky, Julia Binder, Theresa Reischer, Mateja Pfeifer, Anke Scharrer, Christof Worda, Tina Linder, Alex Farr, Romana Höftberger, Ellen Gelpi, Christian Mitter, Gregor Kasprian, Christine Haberler, Nicole Amberg   +16 more
wiley   +1 more source

Review for "Identification of a Dominant <i>MYH11</i> Causal Variant in Chronic Intestinal Pseudo‐Obstruction: Results of Whole‐Exome Sequencing"

, 2019

openalex   +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

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

MOESM1 of Validation of computational determination of microsatellite status using whole exome sequencing data from colorectal cancer patients

, 2019
Amanda Johansen, Christine G. Kassentoft, Michael Knudsen, Maria Laursen, Anders Madsen, Lene Hjerrild Iversen, KĂĽre Sunesen, Mads Kirchheiner Rasmussen, Claus L. Andersen   +8 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

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

Whole exome sequencing [PDF]

, 2014
Bou De Pieri, Francesc, Universitat Autònoma de Barcelona. Facultat de Biociències   +1 more
core