Results 211 to 220 of about 103,351 (258)

Identification of novel compound heterozygous mutations in the GLB1 gene by whole-exome sequencing in a case of infantile GM1 gangliosidosis: a case report. [PDF]

Front Pediatr
Zhong G, Wang K, Liao K, Xie Q, Chen J, Yu R.   +5 more
europepmc   +1 more source

Genetic Characterization of MODY in Iranian Families Using Multigenerational-Based Whole-Exome Sequencing Approach. [PDF]

J Diabetes Res
Sefid F, Dehghan Tezerjani M, Asadollahi S, Madani SA, Pardal T, Imani M, Salmani Z, Rahmanian M, Hozhabri H, Kalantar SM, Vahidi Mehrjardi MY.   +10 more
europepmc   +1 more source

Expanding the Phenotype of PARK‐PRKN to Spastic Paraplegia: A Report of Two Cases

Movement Disorders Clinical Practice, EarlyView.
Nicolas Geoffre, Thomas Ollivier, Guillaume Baille, Luc Defebvre, Vincent Huin, Eugenie Mutez   +5 more
wiley   +1 more source

Broader gene representation by whole-exome sequencing improves accuracy of tumor mutational burden assessment for selection of pembrolizumab immunotherapy. [PDF]

Cancer Immunol Immunother
Radovich M, Wacker J, Solzak J, Tae H, Ribeiro JR, Maney T, Hancock B, Hamrick J, Sledge GW, Ahluwalia MS, Liu SV, Lou E, Subbiah V, Halmos B, Magee D, Spetzler DB.   +15 more
europepmc   +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.
Donald A, Glass, And Anthony A, Nuara
openaire   +4 more sources

Whole exome and whole genome sequencing

Current Opinion in Pediatrics, 2011
The purpose of this review is to describe the new DNA sequencing technologies referred to as next-generation sequencing (NGS). These new methods are becoming central to research in human disease and are starting to be used in routine clinical care.Advances in instrumentation have dramatically reduced the cost of DNA sequencing.
David, Bick, David, Dimmock
openaire   +2 more sources

Whole-Exome/Genome Sequencing and Genomics

Pediatrics, 2013
As medical genetics has progressed from a descriptive entity to one focused on the functional relationship between genes and clinical disorders, emphasis has been placed on genomics. Genomics, a subelement of genetics, is the study of the genome, the sum total of all the genes of an organism.
Wayne W, Grody, Barry H, Thompson, Louanne, Hudgins   +2 more
openaire   +2 more sources

Whole-exome sequencing

2022
We identified a novel de novo heterozygous nonsense variation of KDM5C (c.3533C>A, p.S1178X) in a sporadic 4-year-old Chinese ...
openaire   +1 more source