Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect

por Hadzsiev, Kinga, Gyorsok, Zsuzsanna, Till, Agnes, Czakó, Márta, Bartsch, Oliver
Publicado 2019

First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review

por Diel, Heidi, Ding, Can, Grehn, Franz, Chronopoulos, Panagiotis, Bartsch, Oliver, Hoffmann, Esther M.
Publicado 2021

Correction to: First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review

por Diel, Heidi, Ding, Can, Grehn, Franz, Chronopoulos, Panagiotis, Bartsch, Oliver, Hoffmann, Esther M.
Publicado 2021

FGFR1 variants contributed to families with tooth agenesis

por Yao, Siyue, Zhou, Xi, Gu, Min, Zhang, Chengcheng, Bartsch, Oliver, Vona, Barbara, Fan, Liwen, Ma, Lan, Pan, Yongchu
Publicado 2023

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders

por Komlosi, Katalin, Diederich, Stefan, Fend-Guella, Desiree Lucia, Bartsch, Oliver, Winter, Jennifer, Zechner, Ulrich, Beck, Michael, Meyer, Peter, Schweiger, Susann
Publicado 2018

Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR

por Wilmanns, Christoph, Cooper, Alexis, Wockner, Leesa, Katsandris, Sotirios, Glaser, Nadine, Meyer, Alexander, Bartsch, Oliver, Binder, Harald, Walter, Paul Karl, Zechner, Ulrich
Publicado 2015

A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]

por Schröder, Julia C, Läßig, Anne K, Galetzka, Danuta, Peters, Angelika, Castle, John C, Diederich, Stefan, Zechner, Ulrich, Müller-Forell, Wibke, Keilmann, Annerose, Bartsch, Oliver
Publicado 2013

Adjuvant Treatment for Breast Cancer Patients Using Individualized Neoantigen Peptide Vaccination—A Retrospective Observation

por Zelba, Henning, McQueeney, Alex, Rabsteyn, Armin, Bartsch, Oliver, Kyzirakos, Christina, Kayser, Simone, Harter, Johannes, Latzer, Pauline, Hadaschik, Dirk, Battke, Florian, Hartkopf, Andreas D., Biskup, Saskia
Publicado 2022

Case Report: Targeting of individual somatic tumor mutations by multipeptide vaccination tailored for HLA class I and II presentation induces strong CD4 and CD8 T-cell responses in...

por Zelba, Henning, Rabsteyn, Armin, Bartsch, Oliver, Kyzirakos, Christina, Kayser, Simone, Seibold, Marcel, Harter, Johannes, Latzer, Pauline, Hadaschik, Dirk, Battke, Florian, Golf, Alexander, Rettig, Matthew B., Biskup, Saskia
Publicado 2023

Reduced mRNA and Protein Expression of the Genomic Caretaker RAD9A in Primary Fibroblasts of Individuals with Childhood and Independent Second Cancer

por Weis, Eva, Schoen, Holger, Victor, Anja, Spix, Claudia, Ludwig, Marco, Schneider-Raetzke, Brigitte, Kohlschmidt, Nicolai, Bartsch, Oliver, Gerhold-Ay, Aslihan, Boehm, Nils, Grus, Franz, Haaf, Thomas, Galetzka, Danuta
Publicado 2011

Monozygotic twins discordant for constitutive BRCA1 promoter methylation, childhood cancer and secondary cancer

por Galetzka, Danuta, Hansmann, Tamara, El Hajj, Nady, Weis, Eva, Irmscher, Benjamin, Ludwig, Marco, Schneider-Rätzke, Brigitte, Kohlschmidt, Nicolai, Beyer, Vera, Bartsch, Oliver, Zechner, Ulrich, Spix, Claudia, Haaf, Thomas
Publicado 2012

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

por Wildhardt, Gabriele, Zirn, Birgit, Graul-Neumann, Luitgard M, Wechtenbruch, Juliane, Suckfüll, Markus, Buske, Annegret, Bohring, Axel, Kubisch, Christian, Vogt, Stefanie, Strobl-Wildemann, Gertrud, Greally, Marie, Bartsch, Oliver, Steinberger, Daniela
Publicado 2013

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations

por Vona, Barbara, Müller, Tobias, Nanda, Indrajit, Neuner, Cordula, Hofrichter, Michaela A. H., Schröder, Jörg, Bartsch, Oliver, Läßig, Anne, Keilmann, Annerose, Schraven, Sebastian, Kraus, Fabian, Shehata-Dieler, Wafaa, Haaf, Thomas
Publicado 2014

Use of plasma ctDNA as a potential biomarker for longitudinal monitoring of a patient with metastatic high-risk upper tract urothelial carcinoma receiving pembrolizumab and persona...

por Blumendeller, Carolin, Boehme, Julius, Frick, Maximilian, Schulze, Martin, Rinckleb, Antje, Kyzirakos, Christina, Kayser, Simone, Kopp, Maria, Kelkenberg, Sabine, Pieper, Natalia, Bartsch, Oliver, Hadaschick, Dirk, Battke, Florian, Stenzl, Arnulf, Biskup, Saskia
Publicado 2021

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

por Piard, Juliette, Lespinasse, James, Vlckova, Marketa, Mensah, Martin A., Iurian, Sorin, Simandlova, Martina, Malikova, Marcela, Bartsch, Oliver, Rossi, Massimiliano, Lenoir, Marion, Nugues, Frédérique, Mundlos, Stefan, Kornak, Uwe, Stanier, Philip, Sousa, Sérgio B., Van Maldergem, Lionel
Publicado 2018

Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6

por Gerber, Céline B., Fliedner, Anna, Bartsch, Oliver, Berland, Siren, Dewenter, Malin, Haug, Marte, Hayes, Ian, Marin‐Reina, Purificacion, Mark, Paul R., Martinez‐Castellano, Francisco, Maystadt, Isabelle, Karadurmus, Deniz, Steindl, Katharina, Wiesener, Antje, Zweier, Markus, Sticht, Heinrich, Zweier, Christiane
Publicado 2022