https://scholars.lib.ntu.edu.tw/handle/123456789/353951
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | MING CHEN | en |
dc.creator | Chen, M.;Kuo, H.-H.;Huang, Y.-C.;Ke, Y.-Y.;Chang, S.-P.;Chen, C.-P.;Lee, D.-J.;Lee, M.-L.;Lee, M.-H.;Chen, T.-H.;Chen, C.-H.;Lin, H.-M.;Liu, C.-S.;Ma, G.-C. | - |
dc.date.accessioned | 2018-09-10T07:47:25Z | - |
dc.date.available | 2018-09-10T07:47:25Z | - |
dc.date.issued | 2009 | - |
dc.identifier.uri | http://www.scopus.com/inward/record.url?eid=2-s2.0-67649889421&partnerID=MN8TOARS | - |
dc.identifier.uri | http://scholars.lib.ntu.edu.tw/handle/123456789/353951 | - |
dc.language | en | en |
dc.relation.ispartof | American Journal of Medical Genetics, Part A | en_US |
dc.source | AH-Scopus - Elsevier | - |
dc.subject.classification | [SDGs]SDG3 | - |
dc.subject.other | metalloproteinase; unclassified drug; uterus spasmolytic agent; zinc metallopeptidase ZMPSTE24; amniocentesis; amnion fluid; Apgar score; autopsy; autosomal disorder; case report; chorioamniotic membrane separation; clinical examination; clinical feature; desquamation; disease association; disease course; disease severity; disease surveillance; DNA extraction; female; fetus distress; fetus heart rate; fetus movement; genetic heterogeneity; histopathology; human; infant; joint contracture; letter; molecular genetics; nonsense mutation; oligohydramnios; premature fetus membrane rupture; priority journal; respiratory failure; restrictive dermopathy; skin biopsy; skin disease; tocolysis; X ray film; Amnion; Chorion; Codon, Nonsense; Fatal Outcome; Female; Fetal Membranes, Premature Rupture; Homozygote; Humans; Infant, Newborn; Infant, Newborn, Diseases; Membrane Proteins; Metalloendopeptidases; Pregnancy; Skin Diseases, Genetic | - |
dc.title | A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPST E24 gene | - |
dc.type | journal article | en |
dc.identifier.doi | 10.1002/ajmg.a.32768 | - |
dc.relation.pages | 1550-1554 | - |
dc.relation.journalvolume | 149 | - |
dc.relation.journalissue | 7 | - |
item.fulltext | no fulltext | - |
item.openairetype | journal article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.grantfulltext | none | - |
item.cerifentitytype | Publications | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.orcid | 0000-0001-5076-2917 | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
顯示於: | 醫學系 |
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