Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation von Renner, Agnes B., Walter, Andreas, Fiebig, Britta S., Jägle, Herbert

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Primary Failure of Eruption (PFE) – Clinical and Molecular Genetics Analysis von Stellzig-Eisenhauer, Angelika, Decker, Eva, Meyer-Marcotty, Philipp, Rau, Christiane, Fiebig, Britta S., Kress, Wolfram, Saar, Kathrin, Rüschendorf, Franz, Hubner, Norbert, Grimm, Tiemo, Witt, Emil, Weber, Bernhard H. F.

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A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene von Fritsche, Lars G, Fleckenstein, Monika, Fiebig, Britta S, Schmitz-Valckenberg, Steffen, Bindewald-Wittich, Almut, Keilhauer, Claudia N, Renner, Agnes B, Mackensen, Friederike, Mößner, Andreas, Pauleikhoff, Daniel, Adrion, Christine, Mansmann, Ulrich, Scholl, Hendrik P N, Holz, Frank G, Weber, Bernhard H F

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Phenotypic Variability and Long-term Follow-up of Patients With Known and Novel PRPH2/RDS Gene Mutations von Renner, Agnes B, Fiebig, Britta S, Weber, Bernhard H.F, Wissinger, Bernd, Andreasson, Sten, Gal, Andreas, Cropp, Elke, Kohl, Susanne, Kellner, Ulrich

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Transmitted drug resistance and subtype patterns of viruses from reported new HIV diagnoses in Germany, 2017–2020 von Fiebig, Uwe, Altmann, Britta, Hauser, Andrea, Koppe, Uwe, Hanke, Kirsten, Gunsenheimer-Bartmeyer, Barbara, Bremer, Viviane, Baumgarten, Axel, Bannert, Norbert

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Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders von Michalk, Anne, Stricker, Sigmar, Becker, Jutta, Rupps, Rosemarie, Pantzar, Tapio, Miertus, Jan, Botta, Giovanni, Naretto, Valeria G., Janetzki, Catrin, Yaqoob, Nausheen, Ott, Claus-Eric, Seelow, Dominik, Wieczorek, Dagmar, Fiebig, Britta, Wirth, Brunhilde, Hoopmann, Markus, Walther, Marisa, Körber, Friederike, Blankenburg, Markus, Mundlos, Stefan, Heller, Raoul, Hoffmann, Katrin

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Primary Resistance of Viruses in Reported New Cases of HIV, 2017-2020 von Fiebig, Uwe, Altmann, Britta, Hauser, Andrea, Koppe, Uwe, Hanke, Kirsten, Gunsenheimer-Bartmeyer, Barbara, Bremer, Viviane, Baumgarten, Axel, Bannert, Norbert

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Primary resistance of viruses in reported new cases of HIV, 2017–2020—findings of a nationwide molecular HIV surveillance program von Fiebig, Uwe, Altmann, Britta, Hauser, Andrea, Koppe, Uwe, Hanke, Kirsten, Gunsenheimer-Bartmeyer, Barbara, Bremer, Viviane, Baumgarten, Axel, Bannert, Norbert

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Hypomyelinating leukodystrophy – NKX6–2 gene variant as a cause von Guder, Philipp, Löbel, Ulrike, Fiebig, Britta, Oppermann, Ilena, Berger, Angelika, Bley, Annette

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Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3mutation von Bygum, Anette, Fagerberg, Christina R, Clemmensen, Ole J, Fiebig, Britta, Hafner, Christian

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ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT von Renner, Agnes B., Kellner, Ulrich, Fiebig, Britta, Cropp, Elke, Foerster, Michael H., Weber, Bernhard H. F.

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Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders von Michalk, Anne, Stricker, Sigmar, Becker, Jutta, Rupps, Rosemarie, Pantzar, Tapio, Miertus, Jan, Botta, Giovanni, Naretto, Valeria G, Janetzki, Catrin, Yaqoob, Nausheen, Ott, Claus-Eric, Seelow, Dominik, Wieczorek, Dagmar, Fiebig, Britta, Wirth, Brunhilde, Hoopmann, Markus, Walther, Marisa, Körber, Friederike, Blankenburg, Markus, Mundlos, Stefan, Heller, Raoul, Hoffmann, Katrin

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A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2 von Klopocki, Eva, Fiebig, Britta, Robinson, Peter, Tönnies, Holger, Erdogan, Fikret, Ropers, Hans-Hilger, Mundlos, Stefan, Ullmann, Reinhard

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