Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Michael Bjørn Petersen"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-16 (2020)
Abstract Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteris
Externí odkaz:
https://doaj.org/article/d8b902d266d64d73840f2036d0c4efc0
Autor:
Dan Dupont Hougaard, Danial Hofgaard Hestoy, Allan Thomas Højland, Michael Gaihede, Michael Bjørn Petersen
Publikováno v:
Journal of International Advanced Otology, Vol 15, Iss 2, Pp 296-303 (2019)
Externí odkaz:
https://doaj.org/article/c2371f56174e428b96da3424d1eea7b6
Autor:
Inger Norlyk Sheyanth, Ihab Bishara Lolas, Henrik Okkels, Ligor Pradeep Kiruparajan, Søren Kromann Abildgaard, Michael Bjørn Petersen
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Abstract Background Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is an autosomal dominant, progressive retinal disorder characterized by massive central retinal drusen often partly coalescent forming a characteristic honeycomb
Externí odkaz:
https://doaj.org/article/68b5106fdd6949f3bed154732400b298
Autor:
Inger Norlyk Sheyanth, Allan Thomas Højland, Henrik Okkels, Ihab Lolas, Christian Thorup, Michael Bjørn Petersen
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Abstract Background CABP2‐related non‐syndromic hearing loss have only been reported in a few families worldwide (Iran, Turkey, Pakistan and Italy). The hearing loss was in these cases described as prelingual, symmetrical, and moderate to severe.
Externí odkaz:
https://doaj.org/article/eefdb2cf193240bb860cac6ea31109d0
Autor:
Hans Jakob, Ingerslev, Birte, Degn, Christina, Hnida, Tue, Diemer, Michael Bjørn, Petersen, Tine Nørregaard, Olesen, Henrik, Krarup, Inge Søkilde, Pedersen
Publikováno v:
Ugeskrift for laeger. 180(14)
In Denmark, preimplantation genetic diagnosis (PGD) is offered within the public healthcare to families with a known risk of an inherited disease in a child - as an alternative to prenatal diagnosis. It is a well-established technique with rather wel
Autor:
Hans Jakob Ingerslev, Birte Degn, Christina Hnida, Tue Diemer, Michael Bjørn Petersen, Tine Nørregaard Olesen, Henrik Krarup, Inge Søkilde Pedersen
Publikováno v:
Ingerslev, H J, Degn, B, Hnida, C, Diemer, T, Petersen, M B, Olesen, T N, Krarup, H & Pedersen, I S 2018, ' Præimplantationsgenetisk Diagnostik ', Ugeskrift for Laeger, bind 180, V09170692, s. 2-5 . < http://ugeskriftet.dk/files/scientific_article_files/2018-03/V09170692_1.pdf >
Aarhus University
Aarhus University
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8530ec31e20f4cf8361a84aa29da826a
https://vbn.aau.dk/da/publications/de00525e-fbb5-4bc3-973b-8b3da58612e0
https://vbn.aau.dk/da/publications/de00525e-fbb5-4bc3-973b-8b3da58612e0
Autor:
Danjal Hofgaard Hestoy, Dan Dupont Hougaard, Allan Thomas Højland, Michael Gaihede, Michael Bjørn Petersen
Publikováno v:
Hestoy, D H, Hougaard, D D, Højland, A T, Gaihede, M & Petersen, M B 2017, ' Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G ', European Human Genetics Conference 2017 (ESHG), København, Denmark, 27/05/2017-30/05/2017 .
Aalborg University
Hestoy, D H, Hougaard, D D, Højland, A T, Gaihede, M & Petersen, M B 2017, Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G . in XIV Årsmøde i Dansk Selskab for Otorhinolaryngologi, Hoved-& Halskirurgi . pp. 40, Dansk Selskab for Otorhinolaryngologi, Hoved-& Halskirurgi, Nyborg, Denmark, 20/04/2017 .
Aalborg University
Hestoy, D H, Hougaard, D D, Højland, A T, Gaihede, M & Petersen, M B 2017, Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G . in XIV Årsmøde i Dansk Selskab for Otorhinolaryngologi, Hoved-& Halskirurgi . pp. 40, Dansk Selskab for Otorhinolaryngologi, Hoved-& Halskirurgi, Nyborg, Denmark, 20/04/2017 .
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e42edcea7712a2e66a3308cd46a61e5f
https://vbn.aau.dk/ws/files/265793158/Abstract_ESHG_2017.pdf
https://vbn.aau.dk/ws/files/265793158/Abstract_ESHG_2017.pdf
Publikováno v:
Ugeskrift for laeger. 179(13)
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly characterized by uterovaginal agenesis in females with normal secondary sex characteristics and normal karyotype (46,XX). The prevalence of MRKH syndrome is one in 5,000 live fem
Publikováno v:
Herlin, M, Petersen, M B & Herlin, T 2014, ' Update on Genetic Susceptibility and Pathogenesis in Juvenile Idiopathic Arthritis ', European Medical Journal. Rheumatology, vol. 1, pp. 73-83 . < http://emjreviews.com/therapeutic-area/rheumatology/update-genetic-susceptibility-pathogenesis-juvenile-idiopathic-arthritis/ >
European Medical Journal Rheumatology, Vol 1, Iss 1, Pp 73-83 (2014)
Herlin, M, Petersen, M B & Herlin, T 2014, ' Update on genetic susceptibility and pathogenesis in juvenile idiopathic arthritis. ', European Medical Journal, vol. Rheumatology, no. 1, pp. 73-83 .
Aarhus University
European Medical Journal Rheumatology, Vol 1, Iss 1, Pp 73-83 (2014)
Herlin, M, Petersen, M B & Herlin, T 2014, ' Update on genetic susceptibility and pathogenesis in juvenile idiopathic arthritis. ', European Medical Journal, vol. Rheumatology, no. 1, pp. 73-83 .
Aarhus University
Juvenile idiopathic arthritis (JIA) is a multifactorial disease with a pathogenesis which remains inexplicable. However, genome-wide association studies brought forward within recent years have discovered several new susceptibility genes, and accumul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7b8fbbc6c1b33f5e6818fe5f3a731038
https://vbn.aau.dk/da/publications/e96fa4cc-3b16-4602-a908-cfc0949fe75f
https://vbn.aau.dk/da/publications/e96fa4cc-3b16-4602-a908-cfc0949fe75f
Autor:
Morten Krogh Herlin, Konstantinos Varvagiannis, Lise Gammelgaard, Pernille Axel Gregersen, Periklis Makrythanasis, Antonarakis, Stylianos E., Michael Bjørn Petersen
Publikováno v:
Aarhus University
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7710da017ca74faecad5a8d651fc486d
https://pure.au.dk/portal/en/publications/pontine-tegmental-cap-dysplasia(5b7d58eb-0c77-47db-88b7-2b08e006c177).html
https://pure.au.dk/portal/en/publications/pontine-tegmental-cap-dysplasia(5b7d58eb-0c77-47db-88b7-2b08e006c177).html