Zobrazeno 1 - 10
of 174
pro vyhledávání: '"Rittinger, O"'
Autor:
Bader, Ingrid, Decker, E., Mayr, J.A., Lunzer, V., Koch, J., Boltshauser, E., Sperl, W., Pietsch, P., Ertl-Wagner, B., Bolz, H., Bergmann, C., Rittinger, O.
Publikováno v:
In European Journal of Medical Genetics August 2016 59(8):386-391
Autor:
Tatton-Brown, K, Loveday, C, Yost, S, Clarke, M, Ramsay, E, Zachariou, A, Elliott, A, Wylie, H, Ardissone, A, Rittinger, O, Stewart, F, Temple, IK, Cole, T, Childhood Overgrowth Collaboration, Mahamdallie, S, Seal, S, Ruark, E, Rahman, N
To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference ≥+2 SD) and intellectual disabilit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::70bab1bccc0b5c5af59e7b599483f091
https://openaccess.sgul.ac.uk/id/eprint/109921/1/1-s2.0-S0002929717301155-main.pdf
https://openaccess.sgul.ac.uk/id/eprint/109921/1/1-s2.0-S0002929717301155-main.pdf
Autor:
Douzgou, S, Clayton-Smith, J, Gardner, S, Day, R, Griffiths, P, Strong, K, Amiel, J, Baraitser, M, Brueton, L, Brunner, H, Chrzanowska, K, Dallapiccola, B, Del Campo Casanelles, M, Devriendt, K, Donnai, D, Fitzpatrick, D, Gillessen-Kaesbach, G, Houge, G, Kerr, B, Krajewska-Walasek, M, Lacombe, D, Meinecke, P, Metcalfe, K, Mortier, G, Odent, S, Philip, N, Prescott, T, Raas-Rothschild, A, Rauch, A, Rittinger, O, Salonen, R, Schrander-Stumpel, C, Suri, M, Temple, K, Tolmie, J, Van Der Burgt, I, Verloes, A, Wieczorek, D, Zenker, M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______885::b70975ee3de4cf152f88d4b14d5b7a2e
https://www.zora.uzh.ch/id/eprint/88190/
https://www.zora.uzh.ch/id/eprint/88190/
Autor:
Falco, F., Cainarca, S., Andolfi, G., Ferrentino, R., Berti, C., Rodríguez Criado, G., Rittinger, O., Dennis, N., Odent, S., Rastogi, A., Liebelt, J., Chitayat, D., Winter, R., Jawanda, H., Ballabio, A., Brunella FRANCO, Meroni, G.
Publikováno v:
Scopus-Elsevier
Opitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome is heterogeneous with an X-linked (XLOS) and an autosomal dominant (ADOS) form. The gene implicated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::88520b5c5c74d9aaad4448e645652be8
http://hdl.handle.net/11588/143920
http://hdl.handle.net/11588/143920
Publikováno v:
Klinische Pädiatrie. 203:455-457
This is a report of the neonatal form of nonketotic hyperglycinemia with rapid progressing neurological symptoms, respiratory distress and seizures. The EEG pattern is characteristic, the ratio of cerebrospinal fluid to plasma glycine abnormally high
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
Publikováno v:
European urology. 26(4)
Klinefelter's syndrome with karyotype 47,XXY in patients with primary extragonadal germ cell tumors rarely occurs. The endocrinology of Klinefelter's syndrome is changed; elevated beta-human choriomic gonadotropin levels are present. Chemotherapy and
Publikováno v:
Pädiatrie & Pädologie; Feb2015, Vol. 50 Issue 1, p20-23, 4p
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Akademický článek
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