Results 241 to 250 of about 1,654,437 (300)

Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis. [PDF]

Front Genet
Sen S, Handler HP, Victorsen A, Flaten Z, Ellison A, Knutson TP, Munro SA, Martinez RJ, Billington CJ, Laffin JJ, Bray S, Mroz P, Yohe S, Nelson AC, Bower M, Thyagarajan B.   +15 more
europepmc   +1 more source

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

Genetic Diagnosis

Japanese Journal of Neurosurgery, 2003
openaire   +2 more sources

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

IEIVariantFilter: a bioinformatics tool to speed up genetic diagnosis of inborn errors of immunity patients. [PDF]

NAR Genom Bioinform
Pereda J, Espinosa R, García-Solís B, Guerra-Galán T, Van-Den-Rym A, Kars ME, Mena R, Galán V, de Andrés-Martín A, Rodríguez-Gallego C, López-Lera A, Corvillo F, Pérez-Martínez A, López-Collazo E, Sánchez-Ramón S, Martínez-Barricarte R, Quintana-Murci L, Lorenzo-Salazar JM, Itan Y, Flores C, Pérez-de-Diego R.   +20 more
europepmc   +1 more source

Oncogenetic testing, diagnosis and follow-up in Birt-Hogg-Dubé syndrome, familial atypical multiple mole melanoma syndrome and neurofibromatosis 1 and 2 [PDF]

, 2015
't Kint de Roodenbeke, Daphné, Baurain, Jean-François, Brochez, Lieve, Caplanusi, Teofila, Claes, Kathleen, Hulstaert, Frank, Legius, Eric, Poppe, Bruce, Robays, Jo, Rottey, Sylvie, Schrijvers, Dirk, Stordeur, Sabine, Ullman, Urielle, Van Maerken, Tom   +13 more
core  

Prevalence of anxiety and depression among female patients awaiting pre-implantation genetic diagnosis in a Saudi Arabian tertiary hospital. [PDF]

Saudi Med J
AlOtaibi AS, AlShamlan NA, AlSubki LA, Altuwaigri LO, Awan SA, Farooq D, Saydo BA, Farhan HF, Samhan LM, Yaseen LM, Awartani KA.   +10 more
europepmc   +1 more source

Appropriate time interval to update ambiguous genetic diagnosis in inherited arrhythmogenic syndromes. [PDF]

iScience
Martínez-Barrios E, Greco A, Cesar S, Díez-López C, Cruzalegui J, Díez-Escuté N, Cerralbo P, Chipa F, Zschaeck I, Grassi S, Oliva A, Balderrábano N, Toro R, Sarquella-Brugada G, Campuzano O.   +14 more
europepmc   +1 more source

X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling. [PDF]

Balkan J Med Genet
Mansouri M, Smol T, Louhabe N, Rama M, Rada N, Fdil N, Bouskraoui M, Aboussair N.   +7 more
europepmc   +1 more source

Factors impacting time to genetic diagnosis for children with epilepsy. [PDF]

Epilepsia Open
Rimmasch M, Wilson CA, Walton NA, Huynh K, Bonkowsky JL, Palmquist R.   +5 more
europepmc   +1 more source