Publications
Download CSV
Download XLSX
Download TXT
Tables
2024 (333)
2023 (881)
2022 (829)
2021 (891)
2020 (640)
2019 (727)
2018 (651)
2017 (681)
2016 (664)
2015 (429)
2014 (376)
2013 (319)
2012 (245)
2011 (163)
2010 (139)
All (7968)
Infrastructure Units
Infrastructure Units list
Infrastructure Units table
Researchers
Subset
Documentation
About
Contact
Software
Login
J. Bone Miner. Res.
JSON
ISSN
1523-4681
ISSN-L
0884-0431
IUID
9314b4ce8d014c3a94b815be08107596
Modified
2020-11-27T13:14:04.504Z
Created
2017-05-09T09:12:17.385Z
Year 2024
PubMed
DOI
Crossref
Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures.
Zhou W
, Ås J, Shore-Lorenti C, ..., Ebeling PR,
Zillikens MC
J. Bone Miner. Res.
39
(9) 1315-1326 [2024-09-02; online 2024-08-10]
NGI Short read [Service]
NGI Uppsala (SNP&SEQ Technology Platform) [Service]
National Genomics Infrastructure [Service]
Year 2023
PubMed
DOI
Crossref
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Batkovskyte D, McKenzie F,
Taylan F
, ..., Nishimura G,
Grigelioniene G
J. Bone Miner. Res.
38
(5) 692-706 [2023-05-00; online 2023-03-27]
Bioinformatics Support for Computational Resources [Service]
Clinical Genomics Stockholm [Service]
Year 2021
PubMed
DOI
Crossref
SLC4A2 Deficiency Causes a New Type of Osteopetrosis.
Xue JY, Grigelioniene G, Wang Z, ..., Ikegawa S,
Guo L
J. Bone Miner. Res.
-
(-) - [2021-10-20; online 2021-10-20]
Clinical Genomics Stockholm [Service]
PubMed
DOI
Crossref
Serum 25-hydroxyvitamin D is associated with fracture risk only during periods of seasonally high levels in women with a high body mass index.
Michaëlsson K
,
Byberg L
, Svennblad B, ..., Baron JA, Melhus H
J. Bone Miner. Res.
36
(10) 1957-1966 [2021-10-00; online 2021-07-10]
Bioinformatics Support for Computational Resources [Service]
Year 2018
PubMed
DOI
Crossref
Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information.
Tham E, Grigelionis G, Hammarsjö A, Grigelioniene G
J. Bone Miner. Res.
33
(7) 1377-1378 [2018-07-00; online 2018-06-07]
Bioinformatics Support for Computational Resources [Service]
Clinical Genomics Stockholm [Service]
Year 2017
PubMed
DOI
Crossref
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.
Kämpe AJ, Costantini A, Levy-Shraga Y, ..., Grasemann C, Mäkitie O
J. Bone Miner. Res.
-
(-) - [2017-08-04; online 2017-08-04]
Bioinformatics Support for Computational Resources [Service]
NGI Stockholm (Genomics Applications) [Service]
NGI Stockholm (Genomics Production) [Service]
National Genomics Infrastructure [Service]
PubMed
DOI
Crossref
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
Grigelioniene G, Nevalainen PI, Reyes M, ..., Mäkitie O, Jüppner H
J. Bone Miner. Res.
32
(4) 776-783 [2017-04-00; online 2017-02-24]
Bioinformatics Support for Computational Resources [Service]
Clinical Genomics Stockholm [Service]
NGI Stockholm (Genomics Applications) [Service]
NGI Stockholm (Genomics Production) [Service]
National Genomics Infrastructure [Service]
Year 2016
PubMed
DOI
Crossref
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.
Taylan F, Costantini A, Coles N, ..., Tüysüz B, Mäkitie O
J. Bone Miner. Res.
31
(8) 1577-1585 [2016-08-00; online 2016-03-19]
Bioinformatics Support for Computational Resources [Service]
NGI Stockholm (Genomics Applications) [Service]
NGI Stockholm (Genomics Production) [Service]
National Genomics Infrastructure [Service]
SciLifeLab Data Centre
Publications
9.5.1