Results 311 to 320 of about 1,021,105 (352)

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort. [PDF]

Mol Autism
Viora-Dupont E, Delanne J, Garde A, Nambot S, Colin E, Bournez M, Fauconnier-Fatus C, Racine C, Simao De Souza C, Bernard C, Maurer A, Espitalier A, Binquet C, Bouctot M, Humbert ML, Briffaut AS, Darmency V, Plumet P, Cotinaud-Ricou A, Relin N, Callier P, Mosca-Boidron AL, Marle N, Tran Mau-Them F, Denommé-Pichon AS, Safraou H, Vitobello A, Philippe C, Duffourd Y, Bruel AL, Thauvin-Robinet C, Faivre L.   +31 more
europepmc   +1 more source

The genetic landscape of primary malignant melanoma of the cervix using integrated bioinformatics analysis and whole-exome sequencing. [PDF]

Front Oncol
Zhou J, Xu T, Chen C, Ping Y.
europepmc   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Mapping the Somatic Mutation Landscape of Familial NF2-Related Schwannomatosis using Whole-Exome Sequencing. [PDF]

Int J Med Sci
Luo F, Jiang L, Pan Y, Li H, Tan J, Wu C, Liu Q.   +6 more
europepmc   +1 more source

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions. [PDF]

Eur J Hum Genet
Volpi J, Zhao X, Owen N, Evans T, Holder-Espinasse M, Lahiri N, Sherlock E, Poke G, Breckpot J, Devriendt K, Cools B, Brusco A, Ferrero GB, Grosso E, Vasudevan P, Loddo S, Novelli A, Digilio MC, Engwerda A, Hitzert M, Male A, Bownass L, Newbury-Ecob R, Miedzybrodzka Z, Armstrong R, Lynch SA, Houge G, Xiong S, Lalani SR, Rosenfeld JA, Luna PN, Shaw CA, Scott DA.   +32 more
europepmc   +1 more source

Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China. [PDF]

Front Genet
Zhou C, Xiao Y, Wei X, Wang J, Liu S.
europepmc   +1 more source

Bullae and Scales in a Newborn

JEADV Clinical Practice, EarlyView.
Hamad El Hajj, Dima Jeha, Andre Megarbane, Hala Megarbane   +3 more
wiley   +1 more source

Exome sequencing uncovers phenotypic and genotypic heterogeneity in 198 Indian families evaluated for autoinflammatory disorders

Badiger VA, Radhakrishnan P, Balan S, Rao AP, Udupa P, Nair KV, Hunakunti B, Prasannakumar AP, Shaikh HG, Naik R, Janarthanan M, Sridharan S, Sondhi V, Nampoothiri S, Shah H, Mahadevan S, Mamadapur M, Pandya D, Girisha KM, Shivpuri A, Moirangthem A, Raghuram J, Bhavani GSL, Jeevanagi S, Subramaniam G, Aggarwal A, Shukla A, Narayanan DL.   +27 more
europepmc   +1 more source

Exome Sequencing Reveals a Sparse Genomic Landscape in Kaposi Sarcoma. [PDF]

Mol Cancer Res
Phipps W, Bhinder B, Towlerton A, Mooka P, Kafeero J, Fitzgibbon M, Elemento O, Cesarman E.   +7 more
europepmc   +1 more source

Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family

Yusuf Khan, Mohammed Imad A. Mustafa Mahmud, Norzila Othman, Hazulin Mohd Radzuan, SALMAN ABDUL BASIT   +4 more
openalex   +2 more sources