Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Ragnhild Elise Ørstavik"'
Publikováno v:
Norsk Epidemiologi, Vol 26, Iss 1-2 (2016)
The guest editors: Thomas Sevenius Nilsen Ragnhild Elise Ørstavik Kristian Tambs
Externí odkaz:
https://doaj.org/article/832b97880732421585f896efa8c955aa
Autor:
Ragnhild Elise, Ørstavik
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 141(9)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4a1ef01c38e951fa07ceafa1eb985dc7
https://pubmed.ncbi.nlm.nih.gov/34423956
https://pubmed.ncbi.nlm.nih.gov/34423956
Autor:
Ragnhild Elise, Ørstavik
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 137(9)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1ed5e49f4806522a479253cc11d7f546
https://pubmed.ncbi.nlm.nih.gov/28468444
https://pubmed.ncbi.nlm.nih.gov/28468444
Autor:
Ragnhild Elise, Ørstavik
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 137(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7e64cc9d6624d36349154c8a6e0cd7bd
https://pubmed.ncbi.nlm.nih.gov/28181740
https://pubmed.ncbi.nlm.nih.gov/28181740
Autor:
Ragnhild Elise, Ørstavik
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 136(18)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::af028c0a3b247677cf0533c15da0b8d9
https://pubmed.ncbi.nlm.nih.gov/27883096
https://pubmed.ncbi.nlm.nih.gov/27883096
Autor:
Ragnhild Elise, Ørstavik
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 136(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::444db7d733efe61339ae305fca4780ca
https://pubmed.ncbi.nlm.nih.gov/27052897
https://pubmed.ncbi.nlm.nih.gov/27052897
Publikováno v:
Journal of Medical Genetics. 33:700-703
X linked hypophosphataemia (XLH) results from an abnormality of renal tubular phosphate reabsorption. The disorder is inherited as an X linked dominant trait and the gene has been mapped to Xp22.1-p22.2. A candidate gene (PEX) has recently been isola
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ee7eec6c1a40955548ffac47a519f7b
https://doi.org/10.1136/jmg.33.8.700
https://doi.org/10.1136/jmg.33.8.700
Publikováno v:
American Journal of Medical Genetics. 64:31-34
A new X-linked recessive deafness syndrome was recently reported and mapped to Xq22 (Mohr-Tranebjaerg syndrome). In addition to deafness, the patients had visual impairment, dystonia, fractures, and mental deterioration. The female carriers did not h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f44e0587e2e295460e84d105f8754b4d
https://doi.org/10.1002/(sici)1096-8628(19960712)64:1<31::aid-ajmg4>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960712)64:1<31::aid-ajmg4>3.0.co
Publikováno v:
American Journal of Medical Genetics. 56:210-214
Wiedemann-Beckwith syndrome (WBS) is a syndrome including exomphalos, macroglossia, and generalized overgrowth. The locus has been assigned to 11p15.5, and genomic imprinting may play a part in the expression of one or more genes involved. Most cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dd57fbafb1346dff893b012ebf8a88f
https://doi.org/10.1002/ajmg.1320560219
https://doi.org/10.1002/ajmg.1320560219
Autor:
Ragnhild Elise Ørstavik
Publikováno v:
Tidsskrift for Den norske legeforening. 136:507-507
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b7214f3668c9e84c7937d566138f8f8
https://doi.org/10.4045/tidsskr.16.0277
https://doi.org/10.4045/tidsskr.16.0277