Výsledky vyhledávání - "Jensen, P.K.A"

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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Neuronal cell death in the visual cortex is a prominent feature of the X-linked ressessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene

Autor: Tranebjærg, L., Jensen, P.K.A, Van Ghelue, M., Vnencak-Jones, C L., Sund, S., Elgjo, K., Jakobsen, J., Lindal, S., Warburg, M., Fuglsang-Frederiksen, A., Skullerud, K.

Publikováno v: Tranebjærg, L, Jensen, P K A, Van Ghelue, M, Vnencak-Jones, C L, Sund, S, Elgjo, K, Jakobsen, J, Lindal, S, Warburg, M, Fuglsang-Frederiksen, A & Skullerud, K 2001, ' Neuronal cell death in the visual cortex is a prominent feature of the X-linked ressessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene ', Ophtalmic Genetics, vol. 22, pp. 207-223 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::949164a862b6e058cf8029d39e3fee2b
https://pure.au.dk/portal/da/publications/neuronal-cell-death-in-the-visual-cortex-is-a-prominent-feature-of-the-xlinked-ressessive-mitochondrial-deafnessdystonia-syndrome-caused-by-mutations-in-the-timm8a-gene(32e8ce30-400e-11dc-bee9-02004c4f4f50).html

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Gener og sygdom

Autor: Hertz, J.M., Jensen, P.K.A., Bolund, L.

Publikováno v: Hertz, J M, Jensen, P K A & Bolund, L 2000, Gener og sygdom . i Odontologisk årbog . Handelshøjskolens Forlag, København, s. 69-84 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::e2fa713509c8c7fd155ab98018120883
https://pure.au.dk/portal/da/publications/gener-og-sygdom(748cef50-d116-11da-bee9-02004c4f4f50).html

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Epidermolysis bullosa simplex: Korrelation mellem genotype og fænotype hos danske patienter

Autor: Sørensen, C.B., Ladekjær-Mikkelsen, A.-S., Andresen, B.S., Brandrup, F., Veien, N.K., Buus, S.K., Anton-Lamprecht, I., Kruse, T., Jensen, P.K.A., Eiberg, H., Bolund, L., Gregersen, N.

Publikováno v: Sørensen, C B, Ladekjær-Mikkelsen, A-S, Andresen, B S, Brandrup, F, Veien, N K, Buus, S K, Anton-Lamprecht, I, Kruse, T, Jensen, P K A, Eiberg, H, Bolund, L & Gregersen, N 2000, ' Epidermolysis bullosa simplex: Korrelation mellem genotype og fænotype hos danske patienter ', Ugeskrift for Laeger, bind 162, s. 1873-1876 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::3548ad3480a895d62c2f99a0f889f92b
https://pure.au.dk/portal/da/publications/epidermolysis-bullosa-simplex-korrelation-mellem-genotype-og-faenotype-hos-danske-patienter(00864f80-acf8-11da-bee9-02004c4f4f50).html

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Keratinsygdomme

Autor: Jensen, P.K.A., Sørensen, C.B., Andresen, B.S., Brandrup, F., Veien, N., Buus, S.K. m.fl.

Publikováno v: Jensen, P K A, Sørensen, C B, Andresen, B S, Brandrup, F, Veien, N & Buus, S K M F 2000, ' Keratinsygdomme ', Ugeskrift for læger, bind 162, s. 1867-1872 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3062::4e08ba01a8c507a2fc14010bca82c90e
https://portal.findresearcher.sdu.dk/da/publications/2ff55eb0-ba97-11dc-9626-000ea68e967b

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Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: Correlation between genotype and phenotype

Autor: Sørensen, C.B., Ladekjær-Mikkelsen, A.-S., Andresen, B.S., Brandrup, F., Veien, N.K., Buus, S.K., Anton-Lamprecht, I., Kruse, T.A., Jensen, P.K.A., Eiberg, H., Bolund, L., Gregersen, N.

Publikováno v: Sørensen, C B, Ladekjær-Mikkelsen, A-S, Andresen, B S, Brandrup, F, Veien, N K, Buus, S K, Anton-Lamprecht, I, Kruse, T A, Jensen, P K A, Eiberg, H, Bolund, L & Gregersen, N 1999, ' Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: Correlation between genotype and phenotype ', J. Invest. Dermatol., vol. 112, pp. 184-190 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::776eedaae260997ac7f8415bde66b411
https://pure.au.dk/portal/da/publications/identification-of-novel-and-known-mutations-in-the-genes-for-keratin-5-and-14-in-danish-patients-with-epidermolysis-bullosa-simplex-correlation-between-genotype-and-phenotype(7496d9d0-f7b7-11da-bee9-02004c4f4f50).html

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