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Hum Genet
JSON
ISSN
0340-6717
ISSN-L
0340-6717
IUID
09337fda01e0414ba57f8fb8b5fbb4a3
Modified
2020-11-27T13:13:59.567Z
Created
2018-01-09T14:01:34.299Z
Year 2024
DOI
Crossref
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder
Yahia A, Li D, Lejerkrans S, ..., Kalnak N, Tammimies K
Hum Genet
143
(2) 169-183 [2024-02-00; online 2024-02-01]
Clinical Genomics Stockholm [Service]
Year 2021
PubMed
DOI
Crossref
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Whitman MC
,
Barry BJ
,
Robson CD
, ...,
Manoli I
,
Engle EC
Hum Genet
140
(12) 1709-1731 [2021-12-00; online 2021-10-15]
Clinical Genomics Stockholm [Service]
Year 2017
PubMed
DOI
Crossref
Loss of chromosome Y (LOY) in blood cells is associated with increased risk for disease and mortality in aging men
Forsberg LA
Hum Genet
136
(5) 657-663 [2017-05-00; online 2017-04-19]
NGI Uppsala (SNP&SEQ Technology Platform) [Service]
National Genomics Infrastructure [Service]
SciLifeLab Data Centre
Publications
9.5.1