Please use this identifier to cite or link to this item: https://observatorio.fm.usp.br/handle/OPI/37450
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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorBYERS, H.
dc.contributor.authorMELO, U. Souto
dc.contributor.authorBONNER, D.
dc.contributor.authorHASHEM, M.
dc.contributor.authorDONATO, N. Di
dc.contributor.authorJAHN, A.
dc.contributor.authorALKURAYA, F.
dc.contributor.authorKOK, F.
dc.date.accessioned2020-10-09T12:08:01Z-
dc.date.available2020-10-09T12:08:01Z-
dc.date.issued2020
dc.identifier.citationAMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.182, n.4, p.932-932, 2020
dc.identifier.issn1552-4825
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/37450-
dc.language.isoeng
dc.publisherWILEYeng
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.rightsrestrictedAccesseng
dc.titleMUTATIONS IN UBE4A CAUSE A DNA-REPAIR DEFECT AND UNDERLIE A NOVEL AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY SYNDROMEeng
dc.typeconferenceObjecteng
dc.rights.holderCopyright WILEYeng
dc.description.conferencedateAUG 23-28, 2019
dc.description.conferencelocalSnowbird, UT
dc.description.conferencename40th Annual David W. Smith Workshop on Malformations and Morphogenesis
dc.subject.wosGenetics & Heredityeng
dc.type.categorymeeting abstracteng
dc.type.versionpublishedVersioneng
hcfmusp.author.externalBYERS, H.:Stanford Univ, Stanford, CA 94305 USA
hcfmusp.author.externalMELO, U. Souto:Univ Sao Paulo, Sao Paulo, Brazil
hcfmusp.author.externalBONNER, D.:Stanford Univ, Stanford, CA 94305 USA
hcfmusp.author.externalHASHEM, M.:King Faisal Specialist Hosp & Res Ctr, Riyadh, Saudi Arabia
hcfmusp.author.externalDONATO, N. Di:Tech Univ Dresden, Dresden, Germany
hcfmusp.author.externalJAHN, A.:Tech Univ Dresden, Dresden, Germany
hcfmusp.author.externalALKURAYA, F.:King Faisal Specialist Hosp & Res Ctr, Riyadh, Saudi Arabia
hcfmusp.description.beginpage932
hcfmusp.description.endpage932
hcfmusp.description.issue4
hcfmusp.description.volume182
hcfmusp.origemWOS
hcfmusp.origem.idWOS:000518641400168
hcfmusp.publisher.cityHOBOKENeng
hcfmusp.publisher.countryUSAeng
dc.description.indexMEDLINEeng
dc.identifier.eissn1552-4833
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Comunicações em Eventos - FM/MNE
Departamento de Neurologia - FM/MNE

Comunicações em Eventos - LIM/15
LIM/15 - Laboratório de Investigação em Neurologia


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