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Mol Genet Genomic Med
JSON
ISSN
2324-9269
ISSN-L
2324-9269
IUID
017bd63c7b3a4ec1b6fdb6ac655e108b
Modified
2020-11-27T13:14:09.891Z
Created
2017-05-09T09:11:58.481Z
Year 2021
PubMed
DOI
Crossref
Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications.
Rydzanicz M
,
Olszewski P
, Kedra D, ...,
Dumanski JP
,
Płoski R
Mol Genet Genomic Med
9
(1) e1526 [2021-01-00; online 2020-12-14]
Bioinformatics Compute and Storage [Service]
NGI Uppsala (SNP&SEQ Technology Platform)
National Genomics Infrastructure
Year 2020
PubMed
DOI
Crossref
Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.
Myers L, Blyth M, Moradkhani K, ..., Anderlid BM,
Tammimies K
Mol Genet Genomic Med
8
(1) e1013 [2020-01-00; online 2019-11-15]
Bioinformatics Compute and Storage [Service]
NGI Uppsala (SNP&SEQ Technology Platform) [Service]
National Genomics Infrastructure [Service]
Year 2019
PubMed
DOI
Crossref
Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments.
Clewemar P, Hailer NP, Hailer Y, ..., Ljunggren Ö, Stattin EL
Mol Genet Genomic Med
7
(7) e00723 [2019-07-00; online 2019-05-16]
Bioinformatics Compute and Storage [Service]
Clinical Genomics Uppsala [Service]
NGI Uppsala (Uppsala Genome Center) [Service]
National Genomics Infrastructure [Service]
PubMed
DOI
Crossref
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.
Maffezzini C, Laine I, Dallabona C, ..., Wredenberg A, Wedell A
Mol Genet Genomic Med
7
(6) e654 [2019-06-00; online 2019-03-28]
Clinical Genomics Stockholm [Service]
NGI Stockholm (Genomics Applications) [Service]
NGI Stockholm (Genomics Production) [Service]
National Genomics Infrastructure [Service]
PubMed
DOI
Crossref
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.
Lundin J, Markljung E, Baranowska Körberg I, ..., Lindstrand A, Nordenskjöld A
Mol Genet Genomic Med
7
(6) e666 [2019-06-00; online 2019-05-01]
Bioinformatics Compute and Storage [Service]
NGI Stockholm (Genomics Applications) [Service]
NGI Stockholm (Genomics Production) [Service]
National Genomics Infrastructure [Service]
PubMed
DOI
Crossref
Exome sequencing in 51 early onset non-familial CRC cases.
Thutkawkorapin J
, Lindblom A,
Tham E
Mol Genet Genomic Med
7
(5) e605 [2019-05-00; online 2019-02-27]
Bioinformatics Compute and Storage [Service]
NGI Uppsala (SNP&SEQ Technology Platform) [Service]
National Genomics Infrastructure [Service]
Year 2014
PubMed
DOI
Crossref
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
Laurell T, Nilsson D, Hofmeister W, ..., Grigelioniene G, Nordgren A
Mol Genet Genomic Med
2
(5) 402-411 [2014-09-00; online 2014-05-14]
NGI Stockholm (Genomics Applications)
NGI Stockholm (Genomics Production)
National Genomics Infrastructure
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