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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 10
2022
Høyer, Helle 
ORCID: https://orcid.org/0000-0002-5445-0520; Hilmarsen, Hilde T.; Sunder-Plassmann, Raute; Braathen, Geir J.; Andersen, Peter M; Beetz, Christian ORCID: https://orcid.org/0000-0001-7061-2895; Hacker, Sandra; Holla, Øystein L. ORCID: https://orcid.org/0000-0002-7697-857X; Kurth, Ingo; Löscher, Wolfgang N.; Reiter, Simone B. C. F.; Rudnik-Schöneborn, Sabine; Strand, Linda; Windhager, Reinhard; Witsch-Baumgartner, Martina; Senderek, Jan und Auer-Grumbach, Michaela
(2022):
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.
In: Journal of Medical Genetics, Bd. 59, Nr. 10: S. 1024-1026
[PDF, 2MB]
ORCID: https://orcid.org/0000-0002-5445-0520; Hilmarsen, Hilde T.; Sunder-Plassmann, Raute; Braathen, Geir J.; Andersen, Peter M; Beetz, Christian ORCID: https://orcid.org/0000-0001-7061-2895; Hacker, Sandra; Holla, Øystein L. ORCID: https://orcid.org/0000-0002-7697-857X; Kurth, Ingo; Löscher, Wolfgang N.; Reiter, Simone B. C. F.; Rudnik-Schöneborn, Sabine; Strand, Linda; Windhager, Reinhard; Witsch-Baumgartner, Martina; Senderek, Jan und Auer-Grumbach, Michaela
(2022):
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.
In: Journal of Medical Genetics, Bd. 59, Nr. 10: S. 1024-1026
[PDF, 2MB]
2019
Toth, Bettina; Baston-Buest, Dunja Maria; Behre, Hermann M.; Bielfeld, Alexandra; Bohlmann, Michael; Buehling, Kai; Dittrich, Ralf; Goeckenjan, Maren; Hancke, Katharina; Kliesch, Sabine; Koehn, Frank-Michael; Kruessel, Jan; Kuon, Ruben; Liebenthron, Jana; Nawroth, Frank; Nordhoff, Verena; Pinggera, Germar-Michael; Rogenhofer, Nina; Rudnik-Schöneborn, Sabine; Schuppe, Hans-Christian; Schuering, Andreas; Seifert-Klauss, Vanadin; Strowitzki, Thomas; Tuettelmann, Frank; Vomstein, Kilian; Wildt, Ludwig; Wischmann, Tewes; Wunder, Dorothea und Zschocke, Johannes
(2019):
Diagnosis and Therapy Before Assisted Reproductive Treatments. Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Register Number 015-085, February 2019) - Part 1, Basic Assessment of the Woman.
In: Geburtshilfe und Frauenheilkunde, Bd. 79, Nr. 12: S. 1278-1291
Toth, Bettina; Baston-Buest, Dunja Maria; Behre, HermannM.; Bielfeld, Alexandra; Bohlmann, Michael; Buehling, Kai; Dittrich, Ralf; Goeckenjan, Maren; Hancke, Katharina; Kliesch, Sabine; Koehn, Frank-Michael; Kruessel, Jan; Kuon, Ruben; Liebenthron, Jana; Nawroth, Frank; Nordhoff, Verena; Pinggera, Germar-Michael; Rogenhofer, Nina; Rudnik-Schöneborn, Sabine; Schuppe, Hans-Christian; Schuering, Andreas; Seifert-Klauss, Vanadin; Strowitzki, Thomas; Tuettelmann, Frank; Vomstein, Kilian; Wildt, Ludwig; Wischmann, Tewes; Wunder, Dorothea und Zschocke, Johannes
(2019):
Diagnosis and Treatment Before Assisted Reproductive Treatments. Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Register Number 015-085, February 2019) - Part 2, Hemostaseology, Andrology, Genetics and History of Malignant Disease.
In: Geburtshilfe und Frauenheilkunde, Bd. 79, Nr. 12: S. 1293-1307
2018
Braunisch, M. C.; Gallwitz, H.; Abicht, A.; Diebold, I.; Holinski-Feder, E.; Maldergem, L. van; Lammens, M.; Kovacs-Nagy, R.; Alhaddad, B.; Strom, T. M.; Meitinger, T.; Senderek, J.; Rudnik-Schöneborn, Sabine und Haack, T. B.
(2018):
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.
In: Clinical Genetics, Bd. 93, Nr. 2: S. 255-265
Shashi, Vandana; Magiera, Maria M.; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schöneborn, Sabine; Norman, Andrew; Neto, Osorio Lopes Abath; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A.; Marom, Ronit; Arold, Stefan T.; Guzman-Vega, Francisco J.; Pena, Loren D. M.; Smith, Edward C.; Steinlin, Maja; Babiker, Mohamed O. E.; Mohassel, Payam; Foley, A. Reghan; Donkervoort, Sandra; Kaur, Rupleen; Ghosh, Partha S.; Stanley, Valentina; Musaev, Damir; Nava, Caroline; Mignot, Cyril; Keren, Boris; Scala, Marcello; Tassano, Elisa; Picco, Paolo; Doneda, Paola; Fiorillo, Chiara; Issa, Mahmoud Y.; Alassiri, Ali; Alahmad, Ahmed; Gerard, Amanda; Liu, Pengfei; Yang, Yaping; Ertl-Wagner, Birgit; Kranz, Peter G.; Wentzensen, Ingrid M.; Stucka, Rolf; Stong, Nicholas; Allen, Andrew S.; Goldstein, David B.; Schoser, Benedikt; Rosler, Kai M.; Alfadhel, Majid; Capra, Valeria; Chrast, Roman; Strom, Tim M.; Kamsteeg, Erik-Jan; Bonnemann, Carsten G.; Gleeson, Joseph G.; Martini, Rudolf; Janke, Carsten und Senderek, Jan
(2018):
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
In: EMBO Journal, Bd. 37, Nr. 23, e100540
Toth, Bettina; Wuerfel, Wolfgang; Bohlmann, Michael; Zschocke, Johannes; Rudnik-Schöneborn, Sabine; Nawroth, Frank; Schleussner, Ekkehard; Rogenhofer, Nina; Wischmann, Tewes; Wolff, Michael von; Hancke, Katharina; Otte, Sören von; Kuon, Ruben; Feil, Katharina und Tempfer, Clemens
(2018):
Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/050).
In: Geburtshilfe und Frauenheilkunde, Bd. 78, Nr. 4: S. 364-380
Schatz, Ulrich A.; Weiss, Simone; Wenninger, Stephan; Schoser, Benedikt; Muss, Wolfgang H.; Bittner, Reginald E.; Schmidt, Wolfgang M.; Schossig, Anna S.; Rudnik-Schöneborn, Sabine und Baumann, Matthias
(2018):
Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.
In: Neurology, Bd. 91, Nr. 18, E1690-E1694
[PDF, 539kB]
2017
Rudnik-Schöneborn, Sabine; Auer-Grumbach, Michaela und Senderek, Jan
(2017):
Hereditary Neuropathies: Update 2017.
In: Neuropediatrics, Bd. 48, Nr. 4: S. 282-293
Dijk, Tessa van; Rudnik-Schöneborn, Sabine; Senderek, Jan; Hajmousa, Ghazaleh; Mei, Hailiang; Dusl, Marina; Aronica, Eleonora; Barth, Peter und Baas, Frank
(2017):
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.
In: Brain, Bd. 140, e46
2016
Rudnik-Schöneborn, Sabine; Tölle, D.; Senderek, J.; Eggermann, K.; Elbracht, M.; Kornak, U.; Hagen, M. von der; Kirschner, J.; Leube, B.; Müller-Felberg, W.; Scharah, U.; Au, K. von; Wieczorek, D.; Bußmann, C. und Zerres, K.
(2016):
Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
In: Clinical Genetics, Bd. 89, Nr. 1: S. 34-43