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Akademický článek

Strain path dependence of the precipitate size evolution of an Al–Mg–Li alloy under combined thermal and mechanical loading

Autor: Murken, J, Höhner, R, Skrotzki, B

Publikováno v: In Materials Science & Engineering A 20 December 2003 363(1-2):159-170

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An excess of chromosome 1 breakpoints in male infertility

Publikováno v: Bache, I, Van Assche, E, Cingoz, S, Bugge, M, Tümer, Z, Hjorth, M, Lundsteen, C, Lespinasse, J, Winther, K, Niebuhr, A, Kalscheuer, V, Liebaers, I, Bonduelle, M, Tournaye, H, Ayuso, C, Barbi, G, Blennow, E, Bourrouillou, G, Brondum-Nielsen, K, Bruun-Petersen, G, Croquette, M F, Dahoun, S, Dallapiccola, B, Davison, V, Delobel, B, Duba, H C, Duprez, L, Ferguson-Smith, M, FitzPatrick, D R, Grace, E, Hansmann, I, Hultén, M, Jensen, P K A, Jonveaux, P, Kristoffersson, U, Lopez-Pajares, I, McGowan-Jordan, J, Murken, J, Orera, M, Parkin, T, Passarge, E, Ramos, C & Rasmussen, K 2004, ' An excess of chromosome 1 breakpoints in male infertility. ', European Journal of Human Genetics, vol. 12, pp. 993-1000 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3062::5a374fae6724147fb3cbe4c18c19b89e
https://portal.findresearcher.sdu.dk/da/publications/14fe6160-f198-11db-821c-000ea68e967b

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De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings

Autor: Schuffenhauer, S., Leifheit, H., Lichtner, P., Peters, H., Murken, J., Emmerich, P

A 3 year old boy with a de novo deletion (14)(q11.2q13) of paternal origin encompassing the region from D14S264 to D14S70 is described. The patient presented with severe psychomotor retardation, bilateral cleft lip/palate, bilateral colobomas of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5c0e5ac29440e737bb24c71705b24cfa
https://europepmc.org/articles/PMC1734334/

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[Neurogenetics--the challenge for neurology. 1. Neurogenetic diseases]

Autor: Gasser T, Trenkwalder C, Thomas Meitinger, Tn, Witt, Murken J, Wh, Oertel

Publikováno v: Europe PubMed Central

Progress in molecular genetics has provided insight into a number of neurogenetic disorders. The chromosomal location of the genes for Huntington's disease, Wilson's disease, myotonic dystrophy and Friedreich's ataxia are now known. In families affec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::35860d68973071f3d683312858bb5280
https://pubmed.ncbi.nlm.nih.gov/1749451

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Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232

Autor: Thomas Meitinger, Heye, B., Petit, C., Levilliers, J., Golla, A., Moraine, C., Dalla Piccola, B., Sippell, W. G., Murken, J., Ballabio, A.

Publikováno v: Scopus-Elsevier
Europe PubMed Central

Kallmann syndrome is a genetically heterogeneous disease characterized by hypogonadotropic hypogonadism and anosmia. Six families in which the disorder followed an X-linked inheritance were investigated by linkage analysis. Diagnostic criteria were u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::639fa2d3b04b6379c0a858fc8ce9c277
https://europepmc.org/articles/PMC1683776/

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