Logo: to the web site of Uppsala University
uu.se
Publications from Uppsala University
Please wait ...
Simple search
Advanced search -
Research publications
Advanced search -
Student theses
Statistics
English
Svenska
Norsk
Jump to content
Change search
Search
Search
Only documents with full text in DiVA
Cite
Export
BibTex
CSL-JSON
CSV 1
CSV 2
CSV 3
CSV 4
CSV 5
CSV all metadata
CSV all metadata version 2
RIS
Mods
MARC-XML
ETDMS
Link to record
Permanent link
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-468504
Direct link
http://uu.diva-portal.org/smash/record.jsf?pid=diva2:1648038
Cite
Citation style
apa
ieee
modern-language-association
vancouver
Other style
apa
ieee
modern-language-association
vancouver
Other style
More styles
Language
de-DE
en-GB
en-US
fi-FI
nn-NO
nn-NB
sv-SE
Other locale
de-DE
en-GB
en-US
fi-FI
nn-NO
nn-NB
sv-SE
Other locale
More languages
Output format
html
text
asciidoc
rtf
html
text
asciidoc
rtf
Create
Close
Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
Yıldırım, Yeşerin
Ouriachi, Toufik
Woehlbier, Ute
Ouahioune, Wahiba
Balkan, Mahmut
Malik, Sajid
ORCID iD:
0000-0001-5563-9053
Tolun, Aslıhan
ORCID iD:
0000-0002-0328-6046
Show others and affiliations
2018 (English)
In:
European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 26, no 6, p. 876-885
Article in journal (Refereed) Published
Place, publisher, year, edition, pages
2018. Vol. 26, no 6, p. 876-885
National Category
Medical Genetics and Genomics
Identifiers
URN:
urn:nbn:se:uu:diva-468504
DOI:
10.1038/s41431-018-0121-7
OAI: oai:DiVA.org:uu-468504
DiVA, id:
diva2:1648038
Available from:
2022-03-29
Created:
2022-03-29
Last updated:
2025-02-10
Open Access in DiVA
No full text in DiVA
Other links
Publisher's full text
Search in DiVA
By author/editor
Malik, Sajid
Tolun, Aslıhan
In the same journal
European Journal of Human Genetics
On the subject
Medical Genetics and Genomics
Search outside of DiVA
Google
Google Scholar
doi
urn-nbn
Altmetric score
doi
urn-nbn
Total: 10 hits
Cite
Export
BibTex
CSL-JSON
CSV 1
CSV 2
CSV 3
CSV 4
CSV 5
CSV all metadata
CSV all metadata version 2
RIS
Mods
MARC-XML
ETDMS
Link to record
Permanent link
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-468504
Direct link
http://uu.diva-portal.org/smash/record.jsf?pid=diva2:1648038
Cite
Citation style
apa
ieee
modern-language-association
vancouver
Other style
apa
ieee
modern-language-association
vancouver
Other style
More styles
Language
de-DE
en-GB
en-US
fi-FI
nn-NO
nn-NB
sv-SE
Other locale
de-DE
en-GB
en-US
fi-FI
nn-NO
nn-NB
sv-SE
Other locale
More languages
Output format
html
text
asciidoc
rtf
html
text
asciidoc
rtf
Create
Close
v. 2.46.0
|
WCAG
|
Uppsala University Library
|
Ask the Library
|
Log in to DiVA
|
Search and link in DiVA
DiVA
Logotyp