Zobrazeno 1 - 10
of 183
pro vyhledávání: '"L. Zergollern"'
Autor:
Shmidt, Victoria1 (AUTHOR) victoria.shmidt@uni-graz.at
Publikováno v:
Problems of Post-Communism. Aug2024, p1-12. 12p. 2 Illustrations.
Autor:
W. Berger, A. Meindl, T.J.R. van de Pol, F.P.M. Cremers, H.H. Ropers, C. Döerner, A. Monaco, A.A.B. Bergen, R. Lebo, M. Warburg, L. Zergollern, B. Lorenz, A. Gal, E.M. Bleeker-Wagemakers, T. Meitinger
Publikováno v:
Nature genetics, 1(3), 199-203. Nature Publishing Group
Nature genetics, 2(1). Nature Publishing Group
Nature genetics, 2(1). Nature Publishing Group
The gene for Norrie disease, an X-linked disorder characterized by progressive atrophy of the eyes, mental disturbances and deafness, has been mapped to chromosome Xp11.4 close to DXS7 and the monoamine oxidase (MAO) genes. By subcloning a YAC with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f71e555e085439ecaf331a3f50c04e70
https://doi.org/10.1038/ng0692-199
https://doi.org/10.1038/ng0692-199
Autor:
L, Zergollern
Publikováno v:
Acta medica Croatica : casopis Hravatske akademije medicinskih znanosti. 53(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::33e8d8999a7dfaf023a0c633dd03a70a
https://pubmed.ncbi.nlm.nih.gov/10705621
https://pubmed.ncbi.nlm.nih.gov/10705621
Megalocornea-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocornea, mental and motor retardation, hypotonia, seizures, short stature, and characteristic dysmorphic traits (MIM 249310). We present a new
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1612a9c0cd097babd0a0fba3fb8288c
https://europepmc.org/articles/PMC1050773/
https://europepmc.org/articles/PMC1050773/
Autor:
L, Zergollern
Publikováno v:
Lijecnicki vjesnik. 118
The clinical characterisation of polycystic ovary syndrome (PCOS) and its fenotype complicate the search for its genetic causes. Still now, there is no concordance about the exact clinical phenotype for PCOS and there is still an open question whethe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7e542892041127481a47f08280db0d7c
https://pubmed.ncbi.nlm.nih.gov/8759402
https://pubmed.ncbi.nlm.nih.gov/8759402
Publikováno v:
Lijecnicki vjesnik. 112(11-12)
Fra (X) or Martin-Bell syndrome is the most common X-linked mental retardation with an incidence of 1/1000-2000 newborns. Chromatid break, double chromatid break or total loss of distal part of X chromosome (which occurs most often inside the C posit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::47c11dc75fc1be40a9ed6904fb7ccfd7
https://pubmed.ncbi.nlm.nih.gov/2097475
https://pubmed.ncbi.nlm.nih.gov/2097475
Autor:
L, Zergollern
Publikováno v:
Lijecnicki vjesnik. 112(1-2)
Many new problems and dilemmas have occurred in the practice of medical geneticists with the development of human genetics and its subdisciplines--molecular genetics, ethic genetics and juridical genetics. Devoid of the possibility to get adequate ed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::74d577d1fbd71d106ca3a988bb27737b
https://pubmed.ncbi.nlm.nih.gov/2366624
https://pubmed.ncbi.nlm.nih.gov/2366624
Akademický článek
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Publikováno v:
Acta medica Iugoslavica. 29(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::db75bd5fc17f81635836be11e26eada1
https://pubmed.ncbi.nlm.nih.gov/1199796
https://pubmed.ncbi.nlm.nih.gov/1199796
Autor:
L, Zergollern, D, Begović
Publikováno v:
Acta medica Iugoslavica. 38(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2d56e23aa41b119a9df6da20d74e75b7
https://pubmed.ncbi.nlm.nih.gov/6711357
https://pubmed.ncbi.nlm.nih.gov/6711357