Results 241 to 250 of about 187,376 (271)

Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies

Movement Disorders, EarlyView.
Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings.
Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat, Kimberley Billingsley, Alexis Brice   +4 more
wiley   +1 more source

Whole Exome Sequencing in Drug-Induced Angioedema Caused by Angiotensin-Converting Enzyme Inhibitors: A Pilot Study in Five Patients. [PDF]

J Clin Med
Mendoza-Alvarez A, Martinez-Tadeo JA, Perez-Rodríguez E, Barrios-Recio J, García-Robaina JC, Corrales A, Marcelino-Rodríguez I, Lorenzo-Salazar JM, González-Montelongo R, Flores C, Callero A.   +10 more
europepmc   +1 more source

Molecular genetic profiling of a rare case of primary pulmonary adenoid cystic carcinoma: Insights from whole exome sequencing and literature review. [PDF]

Respir Med Case Rep
Xu J, Cao F, Yao L, Gu J, Pan L, Min J, Xu Z, Su J, Deng Z, Xu S.   +9 more
europepmc   +1 more source

Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder. [PDF]

Sci Rep
Bouzid A, Belcadhi M, Souissi A, Chelly M, Frikha F, Gargouri H, Bonnet C, Jebali F, Loukil S, Petit C, Masmoudi S, Hamoudi R, Ben Said M.   +12 more
europepmc   +1 more source

Multiple Scalp and Neck Lesions in an 80‐Year‐Old Man

JEADV Clinical Practice, EarlyView.
Stephanie L. Ryan, Nicholas Stefanovic, Li J. H. Yoo, Richard Watchorn, Christian Gulmann, Gregg Murray   +5 more
wiley   +1 more source

Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing. [PDF]

Neurogenetics
Li BG, Wu WJ, Wang LH, Wang X, Liu C, Du YK, Li BC, Hu JT, Sun SZ.   +8 more
europepmc   +1 more source

Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing. [PDF]

Int J Mol Sci
Zafar A, Baig RM, Arshad A, Rashid A, Oreshkov S, Frederiksen HN, Ansar M.   +6 more
europepmc   +1 more source

CAPRIN1 Pro512Leu Variant Causes Childhood Dementia, Myoclonus‐Ataxia, and Sensorimotor Neuropathy

Movement Disorders Clinical Practice, EarlyView.
Rossella Bove, Annalaura Torella, Maria Novelli, Giacomina Ricciardi, Luca Pollini, Laura Masuelli, Roberto Bei, Mariateresa Zanobio, Francesco Pisani, Vincenzo Nigro, Vincenzo Leuzzi, Serena Galosi   +11 more
wiley   +1 more source

Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities. [PDF]

Mol Genet Genomic Med
Luo C, Wen E, Liu Y, Wang H, Jia B, Chen L, Wu X, Geng Q, Wen H, Li S, Liu B, Wu W, Zhong M.   +12 more
europepmc   +1 more source