Results 271 to 280 of about 125,953 (296)

Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing. [PDF]

Hemasphere
Marti S, Pellet P, Beaupain B, Durix L, Buratti J, Réguerre Y, Aladjidi N, Azarnoush S, Clauin S, Chahla WA, Blaison G, Bertand J, Bodet D, Brethon B, Chane-Teng J, Delafoy M, Dupraz C, Gandemer V, Denizeau P, Goldenberg A, Hirsch P, l'Haridon A, Marie-Cardine A, Vera G, Nelken B, Nizery L, Nolla M, Pasquet M, Rosain J, Terriou L, Plo I, Donadieu J, Bellanné-Chantelot C.   +32 more
europepmc   +1 more source

Corrigendum: Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis. [PDF]

Front Med (Lausanne)
Jaouadi H, Morel V, Martel H, Lindenbaum P, Lamy de la Chapelle L, Herbane M, Lucas C, Magdinier F, Habib G, Schott JJ, Zaffran S, Nguyen K.   +11 more
europepmc   +1 more source

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome identified by whole-exome sequencing (WES): a case report from a developing country. [PDF]

Oxf Med Case Reports
Joma R, Radwan S, Hannoun S, Hasson J, Aiesh BM.   +4 more
europepmc   +1 more source

Unlocking Genetic Clues: Exome Sequencing in Adult Epilepsy. [PDF]

Neurol Genet
Riva A, Striano P.
europepmc   +1 more source

Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing. [PDF]

Orphanet J Rare Dis
Makhamreh MM, Shivashankar K, Rice SM, Wodoslawsky S, Grant C, McLaren R, Berger SI, Al-Kouatly HB.   +7 more
europepmc   +1 more source

MODY is prevalent in later-onset diabetes, has potential for targeted therapy but is challenging to identify

Sharp LN, Mirshahi UL, Colclough K, Hall TS, Haley J, Cannon S, Laver TW, Weedon MN, Hattersley AT, Carey DJ, Patel KA.   +10 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

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

Exome sequencing: how to understand it [PDF]

Practical Neurology, 2013
### Glossary of terms Calling . The process of determining the DNA bases or regions in sequenced subjects that differ from the reference exome or genome. Coverage . The number of times a single nucleotide in a sequence has been sequenced or read. Exons. The protein coding regions. Exome .
M J Keogh, M J Keogh, Daniyal Daud, Patrick F. Chinnery   +3 more
openaire   +2 more sources

Exome sequencing and its application

Hereditas (Beijing), 2011
In recent years, researchers have identified a large number of complex diseases/traits-associated genetic variants by performing genome-wide association studies (GWAS), which may provide important clues on understanding the mechanisms of related diseases.
Min Li, Xue-Jun Zhang, Xin Zhang
openaire   +3 more sources