Zobrazeno 1 - 10
of 174
pro vyhledávání: '"Jakubiczka, S."'
Publikováno v:
Human Heredity, 2001 Jan 01. 52(3), 177-182.
Externí odkaz:
https://www.jstor.org/stable/48506343
Autor:
Jakubiczka, S.1, Schröder, C.2, Ullmann, R.3, Volleth, M.1, Ledig, S.4, Gilberg, E.5, Kroisel, P.6, Wieacker, P.4
Publikováno v:
Sexual Development. 2010, Vol. 4 Issue 3, p143-149. 7p.
Publikováno v:
Medizinische Genetik. Sep2009, Vol. 21 Issue 3, p337-342. 6p.
Akademický článek
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Autor:
Dvorsky, R., Boegershausen, N., Hove, H. B., Percin, E. F., Aslan, D., Kayhan, G., Zenker, M., Heindl, L. M., Ahmadian, M. R., Wollnik, B., Jakubiczka, S., Wieland, I., Lissewski, C., Bartsch, O., Toft, P. B., Tantcheva-Poor, I., Cursiefen, C., Li, Y., Boppudi, S.
Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony tumor-like lesio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10046::cc88ea2aa6f41f1cdb1d6d465dbf3e80
https://avesis.gazi.edu.tr/publication/details/0feb0d65-8860-43ae-a133-a625fdd749cf/oai
https://avesis.gazi.edu.tr/publication/details/0feb0d65-8860-43ae-a133-a625fdd749cf/oai
Publikováno v:
Journal für Urologie und Urogynäkologie, Vol 7, Iss 6, Pp 22-29 (2000)
Die intrazytoplasmatische Spermatozoeninjektion (ICSI) von testikulären Spermatozoen nach deren Extraktion aus operativ gewonnenen Hodenbiopsaten (testikuläre Spermatozoenextraktion = TESE) ermöglicht die Behandlung der hochgradigen Subfertilität
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::acf97cd4fc28c6725da0782b415923cf
http://www.kup.at/kup/pdf/402.pdf
http://www.kup.at/kup/pdf/402.pdf
Autor:
Jakubiczka, S., Schröder, C., Ullmann, R., Volleth, M., Ledig, S., Gilberg, E., Kroisel, P., P. Wieacker, P.
Publikováno v:
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Campomelic dysplasia (MIM 114290) is a severe malformation syndrome frequently accompanied by male-to-female sex reversal. Causative are mutations within the SOX9 gene on 17q24.3 as well as chromosomal aberrations (translocations, inversions or delet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1874::c0195f9d773085795a0548e33f19caa0
http://content.karger.com/produktedb/produkte.asp?doi=10.1159/000302403&typ=pdf
http://content.karger.com/produktedb/produkte.asp?doi=10.1159/000302403&typ=pdf
We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz.. a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2.3(21 kb), deletes 21,080 bp spanning
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::a2eb34931b3ef03e41c7d846c93df28b
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3053081
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3053081
Autor:
Doerk, T., Macek, M., Mekus, F., Tuemmler, B., Tzountzouris, J., Casals, T., Krebsova, A., Koudova, M., Sakmaryova, I., Vavrova, V., Zemkova, D., Ginter, E., Petrova, N.V., Ivaschenko, T., Baranov, V., Witt, M., Pogorzelski, A., Bal, J., Zekanowsky, C., Wagner, K., Stuhrmann, M., Bauer, I., Seydewitz, H.H., Neumann, T., Jakubiczka, S., Sertić, Jadranka
We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz. a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2, 3(21 kb), deletes 21, 080 bp spannin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::a2818fbd9dc13ce392153376dc228e52
https://www.bib.irb.hr/188570
https://www.bib.irb.hr/188570
Autor:
Boppudi, S., Bögershausen, N., Hove, H.B., Percin, E.F., Aslan, D., Dvorsky, R., Kayhan, G., Li, Y., Cursiefen, C., Tantcheva‐Poor, I., Toft, P.B., Bartsch, O., Lissewski, C., Wieland, I., Jakubiczka, S., Wollnik, B., Ahmadian, M.R., Heindl, L.M., Zenker, M.
Publikováno v:
Clinical Genetics; Oct2016, Vol. 90 Issue 4, p334-342, 10p