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Your search keyword '"Whole exome sequencing (WES)"' showing total 360 results

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360 results on '"Whole exome sequencing (WES)"'

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351. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

352. Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.

353. Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB.

354. Guidance to rational use of pharmaceuticals in gallbladder sarcomatoid carcinoma using patient-derived cancer cells and whole exome sequencing.

355. Next generation sequencing: Coping with rare genetic diseases in China.

356. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.

357. Data Interoperability of Whole Exome Sequencing (WES) Based Mutational Burden Estimates from Different Laboratories.

358. Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing.

359. A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease

360. ABCA7 p.G215S as potential protective factor for Alzheimer's disease

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