Please use this identifier to cite or link to this item:
http://sgc.anlis.gob.ar/handle/123456789/1329
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Mendez, Rodrigo | es |
dc.contributor.author | Delea, Marisol | es |
dc.contributor.author | Dain, Liliana | es |
dc.contributor.author | Rittler, Mónica | es |
dc.date.accessioned | 2019-11-21T20:11:36Z | - |
dc.date.available | 2019-11-21T20:11:36Z | - |
dc.date.issued | 2019-03-26 | - |
dc.identifier.issn | 1473-5717 | - |
dc.identifier.uri | http://sgc.anlis.gob.ar/handle/123456789/1329 | - |
dc.description | Fil: Mendez, Rodrigo. ANLIS Dr. C. G. Malbrán. Centro Nacional de Genética Médica (CeNaGeM). Departamento de medicina genética; Argentina. | es |
dc.description | Fil: Delea, Marisol. ANLIS Dr. C. G. Malbrán. Centro Nacional de Genética Médica (CeNaGeM). Departamento de genética médica; Argentina. | es |
dc.description | Fil: Dain, Liliana. ANLIS Dr. C. G. Malbrán. Centro Nacional de Genética Médica (CeNaGeM). Departamento de genética molecular; Argentina. | es |
dc.description | Fil: Rittler, Mónica. Hospital Materno Infantil "Ramón Sardá". Departamento de medicina genética; Argentina. | es |
dc.language.iso | en | es |
dc.relation.ispartof | Clinical dysmorphology | es |
dc.subject | Blefarofimosis | es |
dc.subject | Criptorquidismo | es |
dc.subject | Cardiopatías Congénitas | es |
dc.title | A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome | es |
dc.type | Artículo | es |
dc.identifier.doi | 10.1097/MCD.0000000000000270 | - |
item.openairetype | Artículo | - |
item.languageiso639-1 | en | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | none | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | No Fulltext | - |
Appears in Collections: | Publicaciones CeNaGeM |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.