Zobrazeno 1 - 10
of 233
pro vyhledávání: '"B, Zoll"'
Publikováno v:
Gastro Hep Advances, Vol 2, Iss 7, Pp 925-927 (2023)
Externí odkaz:
https://doaj.org/article/23f70302db1a412aac8aff8526939057
Publikováno v:
B102. PROFESSIONAL TRAINING AND STAKEHOLDER PERSPECTIVES IN CHRONIC AND SERIOUS ILLNESS.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9161dfb24b348a6ef13bc4ae26e45dc
https://doi.org/10.1164/ajrccm-conference.2022.205.1_meetingabstracts.a3497
https://doi.org/10.1164/ajrccm-conference.2022.205.1_meetingabstracts.a3497
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Fortschritte der Neurologie · Psychiatrie. 81:40-43
X-Linked ichthyosis (XRI) is a keratinisation disorder caused by a mutation of the steroid sulfatase gene. An association with mental retardation and epilepsy has been reported earlier. Here, we report on a patient suffering from cerebellar symptoms
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::250bd41eef7850a700834ea50b3acbdb
https://doi.org/10.1055/s-0032-1330280
https://doi.org/10.1055/s-0032-1330280
Publikováno v:
Clinical Genetics. 46:187-192
Two patients with DiGeorge syndrome (DGS), one with and one without characteristic dysmorphic facial features, were studied by high resolution banding, fluorescence in situ hybridization (FISH) and quantitative Southern blotting. In both patients, ev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b12c363bb1d1afd75c277de210ddc05
https://doi.org/10.1111/j.1399-0004.1994.tb04222.x
https://doi.org/10.1111/j.1399-0004.1994.tb04222.x
Publikováno v:
Monatsschrift Kinderheilkunde. 155:23-28
Das CHARGE-Syndrom, ursprunglich als CHARGE-Assoziation bezeichnet, ist ein autosomal-dominantes Syndrom mit einer sehr variablen Symptomatik. Zu den wichtigsten Manifestationen gehoren Kolobome, Herzfehler, Atresie der Choanen, Retardierung des Wach
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b2ab38a75403b7e6ed4ba5a282d8725d
https://doi.org/10.1007/s00112-006-1397-1
https://doi.org/10.1007/s00112-006-1397-1
Autor:
Wolfram Ziegler, Harm K. Schutte, H Appel, C Kiese-Himmel, Antonio Schindler, Birger Kollmeier, Wolfram Seidner, Heidrun Schröter-Morasch, Oskar Schindler, E Kruse, B Zoll, Jürgen Wendler, Ulrich Eysholdt
Publikováno v:
Lehrbuch der Phoniatrie und Pädaudiologie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::041ff98164d88840695349610a2315f6
https://doi.org/10.1055/b-002-101347
https://doi.org/10.1055/b-002-101347
Autor:
Hildegard Kehrer-Sawatzki, K. Shirneshan, J. Wirth, Stefan K. Bohlander, B. Zoll, K. Bink, B. Gläser, U. G. Bartz
Publikováno v:
American Journal of Medical Genetics Part A. :229-236
We report on the characterization of a de novo, apparently balanced translocation t(X;15)(p11.3;q26) detected in a girl with multiple congenital malformations. Replication banding studies on Epstein–Barr virus transformed peripheral blood lymphocyt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fef249f14053caafa1de7a81203b16c6
https://doi.org/10.1002/ajmg.a.20584
https://doi.org/10.1002/ajmg.a.20584
Publikováno v:
British Journal of Dermatology. 142:1204-1207
The lines of Blaschko represent one of the cutaneous patterns of mosaicism followed by various skin disorders. Developmental abnormalities affecting other tissues derived from the embryonic ectoderm and mesoderm are occasionally associated. We descri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::267fc0979d97a33525d623da2a2c8b34
https://doi.org/10.1046/j.1365-2133.2000.03551.x
https://doi.org/10.1046/j.1365-2133.2000.03551.x
Publikováno v:
Human Reproduction. 12:1909-1912
Since the first reports of successful pregnancies after treatment with intracytoplasmic sperm injection (ICSI) in humans numerous attempts have been made to assess the genetic risks of this highly invasive technique. During the study period (February
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8dca993514de1c129318ce1609a9b88
https://doi.org/10.1093/humrep/12.9.1909
https://doi.org/10.1093/humrep/12.9.1909