Buccal cell whole exome sequencing improves the diagnostic yield in a Cornelia de Lange Syndrome Brazilian cohort

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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.authorNUNES, Beatriz Carvalho
dc.contributor.authorFAVILLA, Bianca Pereira
dc.contributor.authorVILELLA, Thaina
dc.contributor.authorPINHEIRO, Isabel
dc.contributor.authorAOI, Haromi
dc.contributor.authorSEYAMA, Rie
dc.contributor.authorMATSUMOTO, Naomichi
dc.contributor.authorBELLUCCO, Fernanda Teixeira
dc.contributor.authorKIM, Chong
dc.contributor.authorMELARAGNO, Maria Isabel
dc.date.accessioned2024-03-08T15:11:31Z
dc.date.available2024-03-08T15:11:31Z
dc.date.issued2024
dc.description.indexMEDLINE
dc.description.indexPubMed
dc.description.indexWoS
dc.description.sponsorshipSao Paulo Research Foundation (FAPESP) [2022/03428-0, 2019/21644-0]
dc.identifier.citationEUROPEAN JOURNAL OF HUMAN GENETICS, v.32, suppl.1, p.539-540, 2024
dc.identifier.eissn1476-5438
dc.identifier.issn1018-4813
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/58480
dc.language.isoeng
dc.publisherSPRINGERNATUREeng
dc.relation.ispartofEuropean Journal of Human Genetics
dc.rightsrestrictedAccesseng
dc.rights.holderCopyright SPRINGERNATUREeng
dc.subject.wosBiochemistry & Molecular Biologyeng
dc.subject.wosGenetics & Heredityeng
dc.titleBuccal cell whole exome sequencing improves the diagnostic yield in a Cornelia de Lange Syndrome Brazilian cohorteng
dc.typeconferenceObjecteng
dc.type.categorymeeting abstracteng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.affiliation.countryJapão
hcfmusp.affiliation.countryisojp
hcfmusp.author.externalNUNES, Beatriz Carvalho:Univ Fed Sao Paulo, Genet Div, Dept Morphol & Genet, Sao Paulo, Brazil
hcfmusp.author.externalFAVILLA, Bianca Pereira:Univ Fed Sao Paulo, Genet Div, Dept Morphol & Genet, Sao Paulo, Brazil
hcfmusp.author.externalVILELLA, Thaina:Univ Fed Sao Paulo, Genet Div, Dept Morphol & Genet, Sao Paulo, Brazil
hcfmusp.author.externalAOI, Haromi:Yokohama City Univ, Dept Human Genet, Yokohama, Kanagawa, Japan; Juntendo Univ, Dept Obstet & Gynecol, Tokyo, Japan
hcfmusp.author.externalSEYAMA, Rie:Yokohama City Univ, Dept Human Genet, Yokohama, Kanagawa, Japan; Juntendo Univ, Dept Obstet & Gynecol, Tokyo, Japan
hcfmusp.author.externalMATSUMOTO, Naomichi:Yokohama City Univ, Dept Human Genet, Yokohama, Kanagawa, Japan
hcfmusp.author.externalBELLUCCO, Fernanda Teixeira:Univ Fed Sao Paulo, Genet Div, Dept Morphol & Genet, Sao Paulo, Brazil
hcfmusp.author.externalMELARAGNO, Maria Isabel:Univ Fed Sao Paulo, Genet Div, Dept Morphol & Genet, Sao Paulo, Brazil
hcfmusp.contributor.author-fmusphcISABEL FURQUIM PINHEIRO
hcfmusp.contributor.author-fmusphcCHONG AE KIM
hcfmusp.description.beginpage539
hcfmusp.description.endpage540
hcfmusp.description.issuesuppl 1
hcfmusp.description.volume32
hcfmusp.origemWOS
hcfmusp.origem.wosWOS:001147414902506
hcfmusp.publisher.cityLONDONeng
hcfmusp.publisher.countryENGLANDeng
relation.isAuthorOfPublication7c8c9aff-9d91-45ce-9a34-490d7bdd1544
relation.isAuthorOfPublication8715370a-1e5f-4af6-a1c4-ee31748e12a3
relation.isAuthorOfPublication.latestForDiscovery7c8c9aff-9d91-45ce-9a34-490d7bdd1544
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