https://scholars.lib.ntu.edu.tw/handle/123456789/633011
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Hsu, Rai-Hseng | en_US |
dc.contributor.author | Lee, Chen-Hao | en_US |
dc.contributor.author | YIN-HSIU CHIEN | en_US |
dc.contributor.author | Lin, Shuan-Pei | en_US |
dc.contributor.author | Hung, Miao-Zi | en_US |
dc.contributor.author | Chen, Nai-Chi | en_US |
dc.contributor.author | Lin, Yi-Lin | en_US |
dc.contributor.author | WUH-LIANG HWU | en_US |
dc.contributor.author | NI-CHUNG LEE | en_US |
dc.date.accessioned | 2023-06-20T08:36:30Z | - |
dc.date.available | 2023-06-20T08:36:30Z | - |
dc.date.issued | 2023-06 | - |
dc.identifier.issn | 2324-9269 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/633011 | - |
dc.description.abstract | Congenital anomalies (CAs) with or without intellectual disability (ID)/developmental delay (DD) comprise a heterogeneous spectrum of diseases that affect approximately 3% of live births worldwide. Recently, whole-exome sequencing (WES) demonstrated the highly heterogeneous genetic causes of CAs. The purpose of this study was to evaluate a referral system to increase the yield of WES for CAs. | en_US |
dc.language.iso | en | en_US |
dc.publisher | WILEY | en_US |
dc.relation.ispartof | Molecular genetics & genomic medicine | en_US |
dc.subject | chromosomal aberration; developmental delay; intellectual disability; multiple congenital anomalies; whole-exome sequencing | en_US |
dc.title | Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population | en_US |
dc.type | journal article | en |
dc.identifier.doi | 10.1002/mgg3.2160 | - |
dc.identifier.pmid | 36849876 | - |
dc.identifier.scopus | 2-s2.0-85149307617 | - |
dc.identifier.isi | WOS:000940259900001 | - |
dc.identifier.url | https://api.elsevier.com/content/abstract/scopus_id/85149307617 | - |
dc.relation.journalvolume | 11 | en_US |
dc.relation.journalissue | 6 | en_US |
item.fulltext | no fulltext | - |
item.cerifentitytype | Publications | - |
item.languageiso639-1 | en | - |
item.openairetype | journal article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.grantfulltext | none | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.orcid | 0000-0001-8802-5728 | - |
crisitem.author.orcid | 0000-0001-6690-4879 | - |
crisitem.author.orcid | 0000-0002-5011-7499 | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
Appears in Collections: | 醫學系 |
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