Results 301 to 310 of about 157,645 (329)

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

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

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

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

Not So Smooth Sailing: FIG4‐Related Disease Is a Differential Diagnosis of Rapid Onset Dystonia‐Parkinsonism

Movement Disorders Clinical Practice, EarlyView.
Matthew Julian Georgiades, Duncan Wilson, Maria Garcia, Robert Boland‐Freitas, Hugo Morales‐Briceño, Neil Mahant, Victor Shue Chung Fung, Andrew Martin   +7 more
wiley   +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

Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1

Movement Disorders Clinical Practice, EarlyView.
Giulia Scacciatella, Costanza Masetti, Vidal Yahya, Mauro Treddenti, Gaia Oggioni, Tommaso Bocci, Laura Campiglio, Manuela Zardoni, Chiara Rosci, Marta Pengo, Chiara Manfredi, Roberto Del Bo, Edoardo Monfrini, Alessio Di Fonzo, Maurizio Inghilleri, Alberto Priori   +15 more
wiley   +1 more source

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Whole Exome Sequencing

Dermatitis, 2013
Our goal is to highlight annually a methodology of significance to the journal's domains, either because it has been used clinically or researchwise for our fields of interest or because it holds promise as a tool in diagnosing, treating, or investigating corresponding diseases.We hope another strength of this new section is simplicity of language that
and Anthony A. Nuara, Donald A. Glass
openaire   +3 more sources