Auflistung nach Autor "Schäferhoff, Karin"

12q24.33 Deletion: Report of a Patient With Intellectual Disability and Review of the Literature

Kehrer, Martin; Singer, Sylke; Grasshoff, Ute; Bonin, Michael; Tzschach, Andreas; Schäferhoff, Karin; Rieß, Olaf; Schöning, Martin (2013)

A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability

Reith, Milda; Zeltner, Lena; Witt, Dennis; Zuleger, Theresia; Bornemann, Antje; Ruf, Susanne; Stingl, Katarina; Weisschuh, Nicole; Schäferhoff, Karin; Haack, Tobias; Alber, Michael Wolfgang Hans-Peter; Schöls, Ludger (2022)

A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies

Dufke, Andreas; Hoopmann, Markus; Grasshoff, Ute; Heinrich, Tilman; Riess, Angelika; Kehrer, Martin; Liebmann, Alexandra; Roggia, Cristiana; Stampfer, Miriam; Schadeck, Malou; Grimmel, Mona; Gauck, Darja; Baumann, Sarah; Bertrand, Miriam; Menden, Benita; Sturm, Marc; Schütz, Leon; Ossowski, Stephan; Kagan, Karl Oliver; Waldmüller, Stephan; Prodan, Natalia; Beck-Wödl, Stefanie; Falb, Ruth; Müller, Amelie Johanna; Stöbe, Petra; Buchert, Rebecca; Schäferhoff, Karin; Rieß, Olaf; Haack, Tobias (2022)

An early onset cone dystrophy due to CEP290 mutation: a case report

Kohl, Susanne; Grasshoff, Ute; Stingl, Katarina; Schäferhoff, Karin (2023)

Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant

Weisschuh, Nicole; Mazzola, Pascale; Kortüm, Friederike Charlotte Christina; Schäferhoff, Karin (2021)

Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy

Kernstock, Christoph; Wissinger, Bernd; Schäferhoff, Karin; Haack, Tobias (2022)

Characterization of neurite outgrowth and ectopic synaptogenesis in response to photoreceptor dysfunction

Bonin, Michael; Schäferhoff, Karin (2013)

Clinical phenotype of PDE6B-associated retinitis pigmentosa

Kühlewein, Laura; Zobor, Ditta; Štingl, Katarína; Kempf, Melanie; Nasser, Fadi; Bernd, Antje; Mazzola, Pascale; Schäferhoff, Karin; Heinrich, Tilman; Haack, Tobias; Wissinger, Bernd; Zrenner, Eberhart; Weisschuh, Nicole; Kohl, Susanne (2021)

Defining the phenotypical spectrum associated with variants in TUBB2A

Schäferhoff, Karin; Krägeloh-Mann, Ingeborg; Haack, Tobias (2021)

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

Weisschuh, Nicole; Mazzola, Pascale; Zuleger, Theresia; Schäferhoff, Karin; Kühlewein, Laura; Kortüm, Friederike Charlotte Christina; Witt, Dennis; Liebmann, Alexandra; Falb, Ruth; Pohl, Lisa Katharina; Reith, Milda; Stühn, Lara; Bertrand, Miriam; Müller, Amelie Johanna; Casadei, Nicolas; Kelemen, Olga; Kelbsch, Carina; Kernstock, Christoph; Richter, Paul; Sadler, Francoise; Demidov, German; Schütz, Leon; Admard, Jakob; Sturm, Marc; Grasshoff, Ute; Tonagel, Felix; Heinrich, Tilman; Nasser, Fadi; Wissinger, Bernd; Ossowski, Stephan; Kohl, Susanne; Rieß, Olaf; Stingl, Katarina; Haack, Tobias (2024)

Discordance between ultrasound and cell free DNA screening for monosomy X

Kagan, Karl Oliver; Hoopmann, Markus; Singer, Sylke; Schäferhoff, Karin; Dufke, Andreas; Mau-Holzmann, Ulrike A. (2016)

Engineering E-coli for large-scale production - Strategies considering ATP expenses and transcriptional responses

Jäger, Günter; Schäferhoff, Karin (2016)

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies

Kehrer, Martin; Bonin, Michael; Bevot, Andrea; Tzschach, Andreas; Schäferhoff, Karin (2015)

Interstitial 3p25.3-p26.1 Deletion in a Patient With Intellectual Disability

Riess, Angelika; Grasshoff, Ute; Bonin, Michael; Horber, Veronka; Tzschach, Andreas; Schäferhoff, Karin; Rieß, Olaf (2012)

Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate

Tzschach, Andreas; Grasshoff, Ute; Bonin, Michael; Dufke, Andreas; Wolff, Markus; Haas-Lude, Karin; Bevot, Andrea; Rieß, Olaf; Schäferhoff, Karin (2012)

Interstitial Duplication of Chromosome Region 1q25.1q25.3: Report of a Patient With Mild Cognitive Deficits, Tall Stature and Facial Dysmorphisms

Kehrer, Martin; Benkert, Tanja; Singer, Sylke; Grasshoff, Ute; Bonin, Michael; Weichselbaum, Annette; Tzschach, Andreas; Schäferhoff, Karin (2015)

Molecular and cell biological effects of 3,5,3 '-triiodothyronine on progenitor cells of the enteric nervous system in vitro

Mohr, Roland; Neckel, Peter Helmut; Zhang, Ying; Stachon, Susanne; Nothelfer, Katharina; Obermayr, Florian Michael Anton; Bonin, Michael; Just, Lothar; Schäferhoff, Karin (2013)

Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms

Weisschuh, Nicole; Richter, Paul; Park, Joohyun; Schäferhoff, Karin; Haack, Tobias (2022)

Novel HIVEP2 Variants in Patients with Intellectual Disability

Park, Joohyun; Grimmel, Mona; Sturm, Marc; Grasshoff, Ute; Dufke, Andreas; Kehrer, Martin; Schäferhoff, Karin; Haack, Tobias (2019)

Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter -> q21.11::p23.3 -> qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature

Habhab, Wisam; Singer, Sylke; Gerbig, Ines; Dufke, Andreas; Kehrer, Martin; Mau-Holzmann, Ulrike A.; Riess, Angelika; Kagan, Karl Oliver; Schäferhoff, Karin (2020)

Auflistung nach Autor "Schäferhoff, Karin"

Auflistung nach Autor "Schäferhoff, Karin"

Stöbern

Gesamter Bestand

Mein Benutzerkonto

Hilfe & Infos