| Property | Value |
|---|
| Working Groups |  AG Wollnik |
| Subproject | D02 |
| Open Access | No |
| Publication Type | Journal Article |
| Peer Reviewed | Unknown |
| PMID |  30323018 |
| DOI |  10.1136/jmedgenet-2018-105528 |
| Publication Year | 2018 |
| Title | Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome |
| Journal | Journal of Medical Genetics |
| ISSN | 0022-2593 |
| URL | http://dx.doi.org/10.1136/jmedgenet-2018-105528 |
| Pages | jmedgenet-2018-105528 |
| Journal Abbreviation | J Med Genet |
| Authors | Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmüller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Müller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC |
| First Author | Paolacci S |
| Last Author | Hennekam RC |
External Resources
gro-2/76895http://resolver.sub.uni-goettingen.de/purl?gro-2/76895
GRO.publications identifier
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606
NCBI Taxonomy (Homo sapiens)
5fj8https://www.rcsb.org/structure/5fj8
RCSB PDB Identifier (5fj8, Reused)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364
ORCID Identifier (Bernd Wollnik)
05grdyy37https://ror.org/05grdyy37
ROR identifier (05grdyy37, Amsterdam University Medical Centers)
02sy42d13https://ror.org/02sy42d13
ROR identifier (02sy42d13, Bambino Gesù Children's Hospital)
04r33pf22https://ror.org/04r33pf22
ROR identifier (04r33pf22, Guy's Hospital)
02hssy432https://ror.org/02hssy432
ROR identifier (02hssy432, Istituto Superiore di Sanità)
02be6w209https://ror.org/02be6w209
ROR identifier (02be6w209, Sapienza University of Rome)
01km6p862https://ror.org/01km6p862
ROR identifier (01km6p862, United Arab Emirates University)
006gksa02https://ror.org/006gksa02
ROR identifier (006gksa02, Universidad de Oviedo)
059yx9a68https://ror.org/059yx9a68
ROR identifier (059yx9a68, Universidad Nacional de Colombia)
036rp1748https://ror.org/036rp1748
ROR identifier (036rp1748, Universidade de São Paulo)
05mxhda18https://ror.org/05mxhda18
ROR identifier (05mxhda18, University Hospital Cologne)
021ft0n22https://ror.org/021ft0n22
ROR identifier (021ft0n22, University Medical Center Göttingen)
00rcxh774https://ror.org/00rcxh774
ROR identifier (00rcxh774, University of Cologne)
00t3r8h32https://ror.org/00t3r8h32
ROR identifier (00t3r8h32, University of Lübeck)
jmg.bmj....1.docxhttps://jmg.bmj.com/content/jmedgenet/55/12/837/DC1/embed/inline-supplementary-material-1.docx
Supplemental material
Q57463978https://www.wikidata.org/wiki/Q57463978
Wikidata ID
