Please use this identifier to cite or link to this item:
https://observatorio.fm.usp.br/handle/OPI/37450
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor | Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP | |
dc.contributor.author | BYERS, H. | |
dc.contributor.author | MELO, U. Souto | |
dc.contributor.author | BONNER, D. | |
dc.contributor.author | HASHEM, M. | |
dc.contributor.author | DONATO, N. Di | |
dc.contributor.author | JAHN, A. | |
dc.contributor.author | ALKURAYA, F. | |
dc.contributor.author | KOK, F. | |
dc.date.accessioned | 2020-10-09T12:08:01Z | - |
dc.date.available | 2020-10-09T12:08:01Z | - |
dc.date.issued | 2020 | |
dc.identifier.citation | AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.182, n.4, p.932-932, 2020 | |
dc.identifier.issn | 1552-4825 | |
dc.identifier.uri | https://observatorio.fm.usp.br/handle/OPI/37450 | - |
dc.language.iso | eng | |
dc.publisher | WILEY | eng |
dc.relation.ispartof | American Journal of Medical Genetics Part A | |
dc.rights | restrictedAccess | eng |
dc.title | MUTATIONS IN UBE4A CAUSE A DNA-REPAIR DEFECT AND UNDERLIE A NOVEL AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY SYNDROME | eng |
dc.type | conferenceObject | eng |
dc.rights.holder | Copyright WILEY | eng |
dc.description.conferencedate | AUG 23-28, 2019 | |
dc.description.conferencelocal | Snowbird, UT | |
dc.description.conferencename | 40th Annual David W. Smith Workshop on Malformations and Morphogenesis | |
dc.subject.wos | Genetics & Heredity | eng |
dc.type.category | meeting abstract | eng |
dc.type.version | publishedVersion | eng |
hcfmusp.author.external | BYERS, H.:Stanford Univ, Stanford, CA 94305 USA | |
hcfmusp.author.external | MELO, U. Souto:Univ Sao Paulo, Sao Paulo, Brazil | |
hcfmusp.author.external | BONNER, D.:Stanford Univ, Stanford, CA 94305 USA | |
hcfmusp.author.external | HASHEM, M.:King Faisal Specialist Hosp & Res Ctr, Riyadh, Saudi Arabia | |
hcfmusp.author.external | DONATO, N. Di:Tech Univ Dresden, Dresden, Germany | |
hcfmusp.author.external | JAHN, A.:Tech Univ Dresden, Dresden, Germany | |
hcfmusp.author.external | ALKURAYA, F.:King Faisal Specialist Hosp & Res Ctr, Riyadh, Saudi Arabia | |
hcfmusp.description.beginpage | 932 | |
hcfmusp.description.endpage | 932 | |
hcfmusp.description.issue | 4 | |
hcfmusp.description.volume | 182 | |
hcfmusp.origem | WOS | |
hcfmusp.origem.id | WOS:000518641400168 | |
hcfmusp.publisher.city | HOBOKEN | eng |
hcfmusp.publisher.country | USA | eng |
dc.description.index | MEDLINE | eng |
dc.identifier.eissn | 1552-4833 | |
Appears in Collections: | Comunicações em Eventos - FM/MNE Comunicações em Eventos - LIM/15 |
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