Results 151 to 160 of about 127,509 (268)

No association between genetic ancestry and exome sequencing-based diagnosis of inborn errors of metabolism. [PDF]

NPJ Genom Med
Najera J, Mavura Y, Adhikari A, Kvale M, Gallagher RC, Risch N.   +5 more
europepmc   +1 more source

Exom-Komplettanalyse [PDF]

, 2019
openaire   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Understanding the Role of Genetic Testing in Diagnosing a Complex Pediatric Case. [PDF]

Clin Case Rep
Verdi G, Foksinska A, Nichols EL, Schmit EO, Watson A, Eckenrode M, Robin NH.   +6 more
europepmc   +1 more source

Geographic and genetic diversity in gallbladder cancer mutation profiles: insights from a worldwide exome analysis. [PDF]

EBioMedicine
Gárate-Calderón V, Kumar R, Marcelain K, Zollner L, Boekstegers F, Barajas O, Loader D, Rivera MT, Morales E, de Toro G, Caglevic C, Shibata T, Lorenzo Bermejo J.   +12 more
europepmc   +1 more source

Cenobamate use in super‐refractory status epilepticus: A report of three cases

Epileptic Disorders, EarlyView.
Abstract Objectives Super‐refractory status epilepticus (SRSE) is a neurological emergency with high morbidity and mortality. Cenobamate, a novel antiseizure medication, may be helpful in managing SRSE, but evidence is limited. Methods This retrospective case series reports the use of cenobamate as add‐on therapy in the management of three cases of ...
Marina Romozzi, Juan Luis Alcala‐Zermeno, Antonio Funcis, Federico Tosto, Marta Piccioli, Luigi Francesco Iannone, Riccardo Maviglia, Masahito Katsuki, Yasuhiko Matsumori, Paolo Calabresi, Raffaele Iorio, Catello Vollono   +11 more
wiley   +1 more source

Enhanced Exome Sequencing Improves the Genetic Diagnosis of Deafblindness. [PDF]

Genes (Basel)
Cifuentes GA, Diñeiro M, Huete AR, Capín R, Santiago A, Vargas AAR, Carrero D, Biscay J, López Martínez E, Aguiar B, Urbaniak M, Fernández-Vega B, Costales M, González-Aguado R, Cabanillas R, Cadiñanos J.   +15 more
europepmc   +1 more source

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source

Case Report: Epidermal growth factor receptor germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalities. [PDF]

Front Radiol
Ferreira EA, Oud MM, Kamsteeg EJ, van Karnebeek CDM, Langeveld M, Leter EM, Vogel MJ, Wolf NI, Roosendaal SD, van Dillen JJ, Schijns OEMG, Tousseyn S, Hoeberigs C, Rouhl RPW, van der Crabben SN.   +14 more
europepmc   +1 more source

Facilitating the timely diagnosis of Lennox–Gastaut syndrome: A checklist to support clinical practice

Epileptic Disorders, EarlyView.
Abstract Objective To develop and evaluate a simple‐to‐use checklist to support physicians with the timely diagnosis of Lennox–Gastaut syndrome (LGS). Methods A panel of 10 pediatric and adult epileptologists used the International League Against Epilepsy (ILAE) criteria for LGS classification and definition to develop seven questions for the checklist,
Nicola Specchio, Alexis Arzimanoglou, Stéphane Auvin, Antonio Gil‐Nagel, Lieven Lagae, Rima Nabbout, Susanne Schubert‐Bast, Adam Strzelczyk, Eugen Trinka, J. Helen Cross   +9 more
wiley   +1 more source