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Akademický článek
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Publikováno v:
Klinische Pädiatrie. 214:291-294
We report on four mental retarded girls with typical clinical signs of Rett syndrome. Rett syndrome is an X-linked neurodevelopment disorder which develops after a period of normal development at the age of 6 to 18 months, affecting 1/10 000 - 15 000
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f957ca94634238a355a3a4336e9023e2
https://doi.org/10.1055/s-2002-34016
https://doi.org/10.1055/s-2002-34016
Publikováno v:
Molecular Endocrinology. 14:1682-1695
In the kidney, water reabsorption is mainly regulated by the binding of arginine vasopressin to vasopressin type 2 (V2) receptors. These receptors are expressed selectively in principal cells of the collecting ducts. To identify molecular mechanisms
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fa43a79e11e0b2dbea923205b40d37c
https://doi.org/10.1210/mend.14.10.0540
https://doi.org/10.1210/mend.14.10.0540
Autor:
M, Hattori, A, Fujiyama, T D, Taylor, H, Watanabe, T, Yada, H S, Park, A, Toyoda, K, Ishii, Y, Totoki, D K, Choi, Y, Groner, E, Soeda, M, Ohki, T, Takagi, Y, Sakaki, S, Taudien, K, Blechschmidt, A, Polley, U, Menzel, J, Delabar, K, Kumpf, R, Lehmann, D, Patterson, K, Reichwald, A, Rump, M, Schillhabel, A, Schudy, W, Zimmermann, A, Rosenthal, J, Kudoh, K, Schibuya, K, Kawasaki, S, Asakawa, A, Shintani, T, Sasaki, K, Nagamine, S, Mitsuyama, S E, Antonarakis, S, Minoshima, N, Shimizu, G, Nordsiek, K, Hornischer, P, Brant, M, Scharfe, O, Schon, A, Desario, J, Reichelt, G, Kauer, H, Blocker, J, Ramser, A, Beck, S, Klages, S, Hennig, L, Riesselmann, E, Dagand, T, Haaf, S, Wehrmeyer, K, Borzym, K, Gardiner, D, Nizetic, F, Francis, H, Lehrach, R, Reinhardt, M L, Yaspo
Publikováno v:
Nature, Vol. 405, No 6784 (2000) pp. 311-319
Chromosome 21 is the smallest human autosome. An extra copy of chromosome 21 causes Down syndrome, the most frequent genetic cause of significant mental retardation, which affects up to 1 in 700 live births. Several anonymous loci for monogenic disor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e81de50407c789f78acc3b1dee21c85d
https://doi.org/10.1038/35012518
https://doi.org/10.1038/35012518
Publikováno v:
Analytica Chimica Acta. 252:145-151
A flow-injection procedure for the rapid determination of propane-1,2-diol and propylene oxide in aqueous solutions was developed. Propane-1,2-diol can be assayed with immobilized glycerol dehydrogenase and fluorimetric detection of the NADH generate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b52cd1b0ac34fe93158d88a80103483
https://doi.org/10.1016/0003-2670(91)87208-o
https://doi.org/10.1016/0003-2670(91)87208-o
Autor:
T Müller, K Reichwald, AK Wermter, G Brönner, TT Nguyen, S Friedel, K Koberwitz, S Engeli, P Lichtner, T Meitinger, H Schäfer, J Hebebrand, A Hinney
Publikováno v:
Neuro-Visionen 4 ISBN: 9783657764082
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b9e9d251721676e33e6a6e26649d558
https://doi.org/10.30965/9783657764082_031
https://doi.org/10.30965/9783657764082_031
Publikováno v:
Aktuelle Ernährungsmedizin. 29
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76fdf6a6809a723d9b845a9d638fef1d
https://doi.org/10.1055/s-2004-835050
https://doi.org/10.1055/s-2004-835050
Publikováno v:
Klinische Padiatrie. 214(5)
We report on four mental retarded girls with typical clinical signs of Rett syndrome. Rett syndrome is an X-linked neurodevelopment disorder which develops after a period of normal development at the age of 6 to 18 months, affecting 1/10 000 - 15 000
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b05a0fc8281dda87149ca086f245d747
https://pubmed.ncbi.nlm.nih.gov/12235545
https://pubmed.ncbi.nlm.nih.gov/12235545
Publikováno v:
Canadian journal of microbiology. 47(6)
Amongst prokaryotic genomes, those of nitrogen-fixing members of the Rhizobiaceae family are relatively large (6-9 Mb), often include mega-plasmids of 1.5-2 Mb, and contain numerous families of repeated DNA sequences. Although most essential nodulati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::519a69181c01ce23f2f51b4197eb8b1c
https://pubmed.ncbi.nlm.nih.gov/11469253
https://pubmed.ncbi.nlm.nih.gov/11469253
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