Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

Autor: Lüdecke, H.-J., Schaper, J., Meinecke, P., Momeni, P., Groß, S., von Holtum, D., Hirche, H., Abramowicz, M.J., Albrecht, B., Apacik, C., Christen, H.-J., Claussen, U., Devriendt, K., Fastnacht, E., Forderer, A., Friedrich, U., Goodship, T.H.J., Greiwe, M., Hamm, H., Hennekam, R.C.M., Hinkel, G.K., Hoeltzenbein, M., Kayserili, H., Majewski, F., Mathieu, M., McLeod, R., Midro, A.T., Moog, U., Nagai, T., Niikawa, N., Ørstavik, K.H., Plöchl, E., Seitz, C., Schmidtke, J., Tranebjærg, L., Tsukahara, M., Wittwer, B., Zabel, B., Gillessen-Kaesbach, G., Horsthemke, B.

Publikováno v: In The American Journal of Human Genetics 2001 68(1):81-91

Genotypic and phenotypic spectrum in the Tricho-Rhino-Phalangeal Syndromes Types I and III

Autor: Lüdecke, H.-J., Schaper, J., Meinecke, P., Momeni, P., Gross, S., von Holtum, D., Hirsche, H., Abramowicz, M.J., Albrecht, B., Apacik, C., Christen, H.-J., Claussen, U., Devriendt, K., Fastnacht, E., Forderer, A., Friedrich, U., Goodship, T.H.J., Greiwe, M., Hamm, H., Hennekam, R.C.M., Hinkel, G.K., Hoeltzenbein, M., Kayserili, H., Majewski, F., Mathieu, M., McLeod, R., Midro, A.T., Moog, U., Nagai, T., Niikawa, N., Ørstavik, K.H., Plöchl, E., Seitz, C., Schmidtke, J., Tranebjærg, L., Tsukahara, M., Wittwer, B., Zabel, B., Gillessen-Kaesbach, G., Horsthemke, B.

Publikováno v: Lüdecke, H-J, Schaper, J, Meinecke, P, Momeni, P, Gross, S, von Holtum, D, Hirsche, H, Abramowicz, M J, Albrecht, B, Apacik, C, Christen, H-J, Claussen, U, Devriendt, K, Fastnacht, E, Forderer, A, Friedrich, U, Goodship, T H J, Greiwe, M, Hamm, H, Hennekam, R C M, Hinkel, G K, Hoeltzenbein, M, Kayserili, H, Majewski, F, Mathieu, M, McLeod, R, Midro, A T, Moog, U, Nagai, T, Niikawa, N, Ørstavik, K H, Plöchl, E, Seitz, C, Schmidtke, J, Tranebjærg, L, Tsukahara, M, Wittwer, B, Zabel, B, Gillessen-Kaesbach, G & Horsthemke, B 2001, ' Genotypic and phenotypic spectrum in the Tricho-Rhino-Phalangeal Syndromes Types I and III ' Am. J. Hum. Genet., vol. 68, no. 1, pp. 81-91 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::5ed490d57e2d9054cf531d4011c39c91
https://pure.au.dk/portal/da/publications/genotypic-and-phenotypic-spectrum-in-the-trichorhinophalangeal-syndromes-types-i-and-iii(59de0670-ba6f-11da-bee9-02004c4f4f50).html

Clinical, Cytogenetic and Molecular Analysis of Three 46,XX Males

Autor: Vlasak I, Nachtigall M, Plöchl E, Kurnik P, Schiebel K, Rappold Ga, Zierler H, Bergendi E, Rittinger O, Stopar M

Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 12

Cytogenetic analysis, fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) were applied to characterize the Y-chromosomal breakpoints of three XX male patients. Two of these patients show a breakpoint within a protein kinase g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95bfaa2c4c3152206477d251eca7ef2f
https://doi.org/10.1515/jpem.1999.12.3.389

Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. A clinico-pathological case study.

Autor: Schmidtke, K., Endres, W., Roscher, A., Ibel, H., Herschkowitz, N., Bachmann, C., Plöchl, E., Hadorn, H., Plöchl, E, Hadorn, H B

Publikováno v: European Journal of Pediatrics; 1992, Vol. 151 Issue 12, p899-903, 5p

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