Author | Sukalo, Maja | dc.contributor.author |
Author | Schaeflein, Eva | dc.contributor.author |
Author | Schanze, Ina | dc.contributor.author |
Author | Everman, David B. | dc.contributor.author |
Author | Rezaei, Nima | dc.contributor.author |
Author | Argente, Jesus | dc.contributor.author |
Author | Lorda-Sanchez, Isabel | dc.contributor.author |
Author | Deshpande, Charu | dc.contributor.author |
Author | Takahashi, Tsutomu | dc.contributor.author |
Author | Kleger, Alexander | dc.contributor.author |
Author | Zenker, Martin | dc.contributor.author |
Date of accession | 2018-12-04T13:31:20Z | dc.date.accessioned |
Available in OPARU since | 2018-12-04T13:31:20Z | dc.date.available |
Date of first publication | 2017 | dc.date.issued |
Language | en | dc.language.iso |
Publisher | Universität Ulm | dc.publisher |
Keyword | autosomal recessive | dc.subject |
Keyword | Johanson-Blizzard syndrome | dc.subject |
Keyword | MLPA | dc.subject |
Keyword | multiplex ligation-dependent probe amplification | dc.subject |
Keyword | UBR1 | dc.subject |
Dewey Decimal Group | DDC 610 / Medicine & health | dc.subject.ddc |
Title | Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis | dc.title |
Resource type | Wissenschaftlicher Artikel | dc.type |
Institution | UKU. Klinik für Innere Medizin I | uulm.affiliationSpecific |
DCMI Type | Text | uulm.typeDCMI |
Category | Publikationsnachweise | uulm.category |
DOI (external) | 10.1002/mgg3.319 | dc.identifier.doiExternal |
Source - Title of source | Molecular Genetics and Genomic Medicine | source.title |
Source - Place of publication | Wiley | source.publisher |
Source - Volume | 5 | source.volume |
Source - Issue | 6 | source.issue |
Source - Year | 2017 | source.year |
Source - From page | 774 | source.fromPage |
Source - To page | 780 | source.toPage |
Source - ISSN | 2324-9269 | source.identifier.issn |
Open Access | gold | uulm.OA |
Community | Universitätsklinikum Ulm | uulm.community |
WoS | 000418581200016 | uulm.identifier.wos |
Bibliography | uulm | uulm.bibliographie |