Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Harald Broch"'
Autor:
Bjørn Arild Halvorsen, Alf Meberg, Ivar Haagaas, Inger Johanne Fuglevik, Morten Falke, Harald Broch, Josef Kleven
Publikováno v:
Tidsskrift for Den norske legeforening.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2dc8458dd73dbc19ec5a0961e50a43ef
https://doi.org/10.4045/tidsskr.18.0465
https://doi.org/10.4045/tidsskr.18.0465
Autor:
Essam A.R. Ismail, Ryan Bisson, R. Öner, Ralf Krahe, Mohamed A. Abdelaal, Mualla Cetin, C. Öner, Zhongyuan Li, Stephan M. Tanner, Ralph Gräsbeck, Albert de la Chapelle, Harald Broch, Willy Lissens, Ceren Acar
Publikováno v:
Human Mutation. 23:327-333
Selective intestinal malabsorption of vitamin B12 causing juvenile megaloblastic anemia (MGA; MIM# 261100) is a recessively inherited disorder that is believed to be rare except for notable clusters of cases in Finland, Norway, and the Eastern Medite
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ece4097d6e165f17afe17d1af42ce42c
https://doi.org/10.1002/humu.20014
https://doi.org/10.1002/humu.20014
Autor:
Maria Aminoff, Lasse Jenner, Jo Ellen Carter, S K Moestrup, Pierre J. Verroust, Cheryl K. Johnson, Harald Broch, Ralf Krahe, Mohamed A. Abdelaal, Robert B. Chadwick, Ralph Gräsbeck, Albert de la Chapelle
Publikováno v:
Nature Genetics. 21:309-313
Megaloblastic anaemia 1 (MGA1, OMIM 261100) is a rare, autosomal recessive disorder characterized by juvenile megaloblastic anaemia, as well as neurological symptoms that may be the only manifestations. At the cellular level, MGA1 is characterized by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99bbf41ad2ed42deeff74d3adf584fed
https://doi.org/10.1038/6831
https://doi.org/10.1038/6831
Autor:
Alf Meberg, Harald Broch
Publikováno v:
jpme. 23:395-402
In a population-based study cerebral palsy (CP) was diagnosed in 110 cases (2.4 per 1000) among children live born with birth weight > or = 500 g (n = 45,976) during the 20-year-period 1970-89 (CP cases with a postneonatal etiology excluded). The CP-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f46f7f83fed835bd76269dfa27c56d16
https://doi.org/10.1515/jpme.1995.23.5.395
https://doi.org/10.1515/jpme.1995.23.5.395
Autor:
Stephan M, Tanner, Zhongyuan, Li, Ryan, Bisson, Ceren, Acar, Cihan, Oner, Reyhan, Oner, Mualla, Cetin, Mohamed A, Abdelaal, Essam A, Ismail, Willy, Lissens, Ralf, Krahe, Harald, Broch, Ralph, Gräsbeck, Albert, de la Chapelle
Publikováno v:
Human mutation. 23(4)
Selective intestinal malabsorption of vitamin B(12) causing juvenile megaloblastic anemia (MGA; MIM# 261100) is a recessively inherited disorder that is believed to be rare except for notable clusters of cases in Finland, Norway, and the Eastern Medi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1b6b79ff79ae6bf5509e722faf81a7f1
https://pubmed.ncbi.nlm.nih.gov/15024727
https://pubmed.ncbi.nlm.nih.gov/15024727
Autor:
Alf Meberg, Harald Broch
Publikováno v:
Journal of Perinatal Medicine. 32
To register the prevalence of cerebral palsy (CP) and determine etiological factors for the condition.Population based study with registration of CP-cases in children born during the 30-year period 1970-99. Cases with postneonatal etiology were exclu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15beff95634232ff79d0f1b48dbcb215
https://doi.org/10.1515/jpm.2004.143
https://doi.org/10.1515/jpm.2004.143
Autor:
Harald Broch, Stephan M. Tanner, Anne Saarinen, Fred A. Wright, Orit Massika, Hanna Mandel, Mervi Kuronen, Maria Aminoff, Sandya Liyanarachchi, Albert de la Chapelle
Publikováno v:
Nature genetics. 33(3)
The amnionless gene, Amn, on mouse chromosome 12 encodes a type I transmembrane protein that is expressed in the extraembryonic visceral layer during gastrulation. Mice homozygous with respect to the amn mutation generated by a transgene insertion ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b692cbfd58085c974d48d1893a05ac29
https://pubmed.ncbi.nlm.nih.gov/12590260
https://pubmed.ncbi.nlm.nih.gov/12590260