Results 111 to 120 of about 215,208 (174)

Whole exome sequencing as a screening tool in dogs: A pilot study. [PDF]

Comput Struct Biotechnol J
Boeykens F, Bogaerts E, Vossaert L, Peelman L, Van Nieuwerburgh F, Saunders JH, Broeckx BJG.   +6 more
europepmc   +1 more source

Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies. [PDF]

Hum Genomics
Zeng Z, Zhang L, Zhou Y, Zhang X, Yi H, Li H, Liu Y, Li J, Chen Q, Chen Y, Yu G, Yi J, Zhang Y, Zhang H, Dong Y.   +14 more
europepmc   +1 more source

Comparative exome sequencing of metastatic lesions provides insights into the mutational progression of melanoma [PDF]

, 2012
Jared J. Gartner, Sean Davis, Xiaomu Wei, Jimmy Lin, Niraj Trivedi, Jamie K. Teer, Paul S. Meltzer, Steven A. Rosenberg, Yardena Samuels   +8 more
openalex   +1 more source

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG [PDF]

, 2012
Gert Matthijs, Daisy Rymen, María Beatriz Bistué Millón, Erika Souche, Valérie Race   +4 more
openalex   +1 more source

Exome sequencing identifies novel genes associated with cerebellar volume and microstructure. [PDF]

Commun Biol
Liang Y, Ma D, Li M, Wang Z, Hao C, Sun Y, Hao X, Zuo C, Li S, Feng Y, Qi S, Wang Y, Sun S, Xu YM, Andreassen OA, Shi C.   +15 more
europepmc   +1 more source

Exome sequencing in Nigerian children with early-onset epilepsy syndromes. [PDF]

Epilepsia Open
Ademuwagun IA, Adam Y, Rotimi SO, Syrbe S, Radtke M, Hentschel J, Lemke JR, Adebiyi E.   +7 more
europepmc   +1 more source

Mast-cell leukemia exome sequencing reveals a mutation in the IgE mast-cell receptor β chain and KIT V654A

, 2011
Mona S. Spector, Ivan Iossifov, Athena Kritharis, Chao‐Jie He, Jonathan E. Kolitz, S. W. Lowe, Steven L. Allen   +6 more
openalex   +1 more source

Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis [PDF]

, 2012
Andreas Leidenroth, Hanne Sørmo Sorte, Gregor D. Gilfillan, Melanie Ehrlich, Robert Lyle, Jane Hewitt   +5 more
openalex   +1 more source

Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing. [PDF]

Sci Rep
Ahmad S, Gandapur MS, Jelani M, Muhammad A, Haq IU, Mahsood YJ, Ahmad S, Alonazi WB, Bibi N, Sarwar MT, Khan TA.   +10 more
europepmc   +1 more source

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

, 2011
Jonathan S. Berg, James P. Evans, Margaret W. Leigh, Heymut Omran, Chris Bizon, Ketan K. Mane, Michael R. Knowles, Karen E. Weck, Maimoona A. Zariwala   +8 more
openalex   +2 more sources