Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Tina, Rating"'
Publikováno v:
Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::36e938561368b4ae0ff43f3b3033a544
https://doi.org/10.1055/s-0039-1698246
https://doi.org/10.1055/s-0039-1698246
Publikováno v:
Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7b9c84f1ea1a217070d6811656696d7a
https://doi.org/10.1055/s-0039-1698247
https://doi.org/10.1055/s-0039-1698247
Publikováno v:
Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::64ac889e8e0c7640b5e1f439518f4e07
https://doi.org/10.1055/s-0039-1698193
https://doi.org/10.1055/s-0039-1698193
Autor:
Milka, Pringsheim, Diana, Mitter, Simone, Schröder, Rita, Warthemann, Kim, Plümacher, Gerhard, Kluger, Martina, Baethmann, Thomas, Bast, Sarah, Braun, Hans-Martin, Büttel, Elizabeth, Conover, Carolina, Courage, Alexandre N, Datta, Angelika, Eger, Theresa A, Grebe, Annette, Hasse-Wittmer, Marion, Heruth, Karen, Höft, Angela M, Kaindl, Stephanie, Karch, Torsten, Kautzky, Georg C, Korenke, Bernd, Kruse, Richard E, Lutz, Heymut, Omran, Steffi, Patzer, Heike, Philippi, Keri, Ramsey, Tina, Rating, Angelika, Rieß, Mareike, Schimmel, Rachel, Westman, Frank-Martin, Zech, Birgit, Zirn, Pauline A, Ulmke, Godwin, Sokpor, Tran, Tuoc, Andreas, Leha, Martin, Staudt, Knut, Brockmann
Publikováno v:
Annals of Clinical and Translational Neurology
Objective FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous FOXG1 variants or chromosomal microaberrations in 14q12. The study aimed at assessing the scope of structural cerebral anomalies revealed by neuroimaging to d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9276898e4ccb621327463e48c5639f79
http://hdl.handle.net/10138/301566
http://hdl.handle.net/10138/301566
Autor:
Birgit Zirn, Wolfram Heinritz, Keri Ramsey, Milka Pringsheim, Angelika Rieß, Dörthe Malzahn, Marc Kaulisch, Hans Martin Büttel, Katherine L. Helbig, Johannes R. Lemke, Luis Rohena, Martina Baethmann, G. Christoph Korenke, Frank Martin Zech, Marion Heruth, Isabelle Prehl, Konstanze Hoertnagel, Kim Sarah Plümacher, Knut Brockmann, Carolina Courage, Gerhard Kluger, Stephanie Karch, Karen Höft, Diana Mitter, Barbara Zoll, Julie S. Cohen, Angelika Eger, Rami Abou Jamra, Steffi Patzer, Theresa A. Grebe, Simone Schröder, Ali Fatemi, Dagmar Huhle, Richard E. Lutz, Tina Rating, Elizabeth Conover, Mareike Schimmel, Thomas Bast, Rita Warthemann, Rachel Westman, Natalie Hauser
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(1)
PurposeThe study aimed at widening the clinical and genetic spectrum and assessing genotype-phenotype associations in FOXG1 syndrome due to FOXG1 variants.MethodsWe compiled 30 new and 53 reported patients with a heterozygous pathogenic or likely pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d1ca1d751ebedeb1b4598eb9aaa4e1e
https://pubmed.ncbi.nlm.nih.gov/28661489
https://pubmed.ncbi.nlm.nih.gov/28661489
Autor:
Tina Rating, Daniel Güllmar, U. Löbel, Hans-J. Mentzel, Jürgen R. Reichenbach, Werner A. Kaiser, Demet Karadag, U. Brandl
Publikováno v:
Pediatric radiology. 35(10)
Reichenbach, Jurgen R./0000-0002-2640-0630; Guellmar, Daniel/0000-0001-8693-8099; Warfield, Simon/0000-0002-7659-3880 WOS: 000231949700004 PubMed: 16170442 Background: Tuberous sclerosis (TS) is characterised by benign hamartomatous lesions in many o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0756b75430f4fcffca4c89102d7c1ec
https://pubmed.ncbi.nlm.nih.gov/16170442
https://pubmed.ncbi.nlm.nih.gov/16170442