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

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

Item
http://www.wikidata.org/entity/Q36082177
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Lessons learned from additional research analyses of unsolved clinical exome cases.Genomic diagnostics within a medically underserved population: efficacy and implications.Protein-Protein Interaction Among the FoxP Family Members and their Regulation of Two Target Genes, VLDLR and CNTNAP2 in the Zebra Finch Song System.Identification of novel candidate disease genes from de novo exonic copy number variants.WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.Discovery of VU6005649, a CNS Penetrant mGlu7/8 Receptor PAM Derived from a Series of Pyrazolo[1,5-a]pyrimidines.Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderMetabotropic Glutamate Receptor 7: A New Therapeutic Target in Neurodevelopmental DisordersNovel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
P2860

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

Item
http://www.wikidata.org/entity/Q36082177
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Exome sequencing in mostly con ...... ntial molecular diagnosis rate
@ast
Exome sequencing in mostly con ...... ntial molecular diagnosis rate
@en
type
label
Exome sequencing in mostly con ...... ntial molecular diagnosis rate
@ast
Exome sequencing in mostly con ...... ntial molecular diagnosis rate
@en
prefLabel
Exome sequencing in mostly con ...... ntial molecular diagnosis rate
@ast
Exome sequencing in mostly con ...... ntial molecular diagnosis rate
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698
P932
P356
P1433
P1476
Exome sequencing in mostly con ...... ntial molecular diagnosis rate
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698
P932