Zobrazeno 1 - 10
of 62
pro vyhledávání: '"C. Spaich"'
Autor:
Christian Sittel, R. Boppert, P. Amrhein, C. Spaich, P. Kohlhof, J. Kohlhase, Assen Koitschev
Publikováno v:
HNO. 62:374-377
Branchio-oto-renal (BOR) syndrome is characterized by ear malformations associated with sensorineural or mixed hearing loss. In addition, preauricular tags, preauricular pits, branchial cleft fistulas and cysts, as well as renal dysplasia are seen. A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b8ccb0ee1a92ccfbfc0e91b0cdc6b9a7
https://doi.org/10.1007/s00106-013-2728-x
https://doi.org/10.1007/s00106-013-2728-x
Publikováno v:
Neuropediatrics. 47
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ad63cca8e4580fd7723deb0a25f9ee65
https://doi.org/10.1055/s-0036-1583684
https://doi.org/10.1055/s-0036-1583684
Autor:
Hartmut A. Wollmann, C Spaich, Gerhard Binder, Thomas Eggermann, Michael B. Ranke, Susanne Jäger, Nadine Schönherr
Publikováno v:
Clinical Genetics. 74:486-489
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e44777fa1ae76168c441252af0842fa
https://doi.org/10.1111/j.1399-0004.2008.01057.x
https://doi.org/10.1111/j.1399-0004.2008.01057.x
[Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH]
Publikováno v:
HNO. 62(5)
Branchio-oto-renal (BOR) syndrome is characterized by ear malformations associated with sensorineural or mixed hearing loss. In addition, preauricular tags, preauricular pits, branchial cleft fistulas and cysts, as well as renal dysplasia are seen. A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::75fae4f5f94bc34b13fe77dfb1456614
https://pubmed.ncbi.nlm.nih.gov/23868653
https://pubmed.ncbi.nlm.nih.gov/23868653
Autor:
S. Kortge-Jung, S. Spranger, Yemima Berman, M. L. Wright, G. C. Korenke, I. Schreyer, Ulrike Schara, Gerhard Schuierer, J. Winkler, C. Spaich, J. Stiegler, J. Kohlhase, L. Dey, C. Hertzberg, A. Hehr, D. Muller, Ulrich Bogdahn, Ludwig Aigner, P. Martin, M. Meng, E. Mangold, G. Buyse, J. Klapecki, T. E. Neumann, Christine Zeschnigk, P. Burkart, Lesley C. Adès, Ute Hehr, Deborah J. Morris-Rosendahl, C. Gross, B. Schulze, G. Uyanik, H. Holthausen, Peter Meinecke, J. Seidel, Gerhard Wolff, G. Helland
Publikováno v:
Neurology. 69(5)
Background: Lissencephaly is a neuronal migration disorder leading to absent or reduced gyration and a broadened but poorly organized cortex. The most common form of lissencephaly is isolated, referred as classic or type 1 lissencephaly. Type 1 lisse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa7a034d48bc36cbe2a73ed60552d7e5
https://pubmed.ncbi.nlm.nih.gov/17664400
https://pubmed.ncbi.nlm.nih.gov/17664400
In the March 1999 issue of the journal, Portnoi et al 1 reported on a patient with a marker chromosome with neocentromere which originated from distal 3q. Here we describe a further example of this type of marker chromosome from distal 3q, which is s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69ef1304a88ef321d29a34b4cfe76c3c
https://europepmc.org/articles/PMC1735408/
https://europepmc.org/articles/PMC1735408/
Publikováno v:
Clinical genetics. 56(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d9176cc530e5040d03cdc2dbd60ffb27
https://pubmed.ncbi.nlm.nih.gov/10665668
https://pubmed.ncbi.nlm.nih.gov/10665668
Publikováno v:
Scientific Data; 11/9/2024, Vol. 11 Issue 1, p1-10, 10p
Autor:
Kantan, Prithvi Ravi1 (AUTHOR), Dahl, Sofia1 (AUTHOR), Jørgensen, Helle Rovsing2 (AUTHOR), Khadye, Chetali3 (AUTHOR), Spaich, Erika G.4 (AUTHOR) espaich@hst.aau.dk
Publikováno v:
Sensors (14248220). Apr2023, Vol. 23 Issue 8, p3964. 27p.
Autor:
Efthimiou, Themis Nikolas, Hernandez, Monica Perusquia, Elsenaar, Arthur, Mehu, Marc, Korb, Sebastian
Publikováno v:
Behavior Research Methods; Apr2024, Vol. 56 Issue 4, p2941-2976, 36p