Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
about
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurologyThe diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophyExome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey
P2860
Q33707516-AB9D2CFD-49E8-4057-BA15-5B1F3601B39FQ38883296-F4514A5E-57B1-45ED-96DF-FD64EC550D2CQ39078366-607B0B51-B945-43A3-A88C-98BB9E0976EBQ45944246-DD36A582-198F-4D13-87FB-79A5B1636A10Q47943906-9D0808E4-FD86-4D8F-8CBB-B84BA0781DB9Q50073165-F6EA0880-D7DB-487B-A539-DE9913CF405BQ52316825-725C9F00-F169-4CEF-8D5A-17CB56D25B5BQ57292499-E4CE64F3-DAB7-41BE-87EA-571BD20E04ABQ58799601-F49425EF-40D3-48F8-BB3D-CADBF78C02F2
P2860
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
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
Detection of clinically releva ...... ge cohort of genetic disorders
@en
type
label
Detection of clinically releva ...... ge cohort of genetic disorders
@en
prefLabel
Detection of clinically releva ...... ge cohort of genetic disorders
@en
P2093
P2860
P50
P356
P1433
P1476
Detection of clinically releva ...... ge cohort of genetic disorders
@en
P2093
Alexander P A Stegmann
Annet Simons
Dorien Lugtenberg
Erik-Jan Kamsteeg
Hans Scheffer
Helger G Yntema
Irene M Janssen
Jayne Y Hehir-Kwa
Lisenka E L M Vissers
Marcel R Nelen
P2860
P2888
P304
P356
10.1038/GIM.2016.163
P407
P50
P577
2016-10-27T00:00:00Z