An Autoinhibitory Domain Confers Redox Regulation to Maize Glycerate Kinase(1)([W])

Bằng Bartsch, Oliver, Mikkat, Stefan, Hagemann, Martin, Bauwe, Hermann
Được phát hành 2010

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

Bằng Hadzsiev, Kinga, Gyorsok, Zsuzsanna, Till, Agnes, Czakó, Márta, Bartsch, Oliver
Xuất bản năm Clin Dysmorphol (2019)

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

Bằng Diel, Heidi, Ding, Can, Grehn, Franz, Chronopoulos, Panagiotis, Bartsch, Oliver, Hoffmann, Esther M.
Xuất bản năm BMC Ophthalmol (2021)

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

Bằng Diel, Heidi, Ding, Can, Grehn, Franz, Chronopoulos, Panagiotis, Bartsch, Oliver, Hoffmann, Esther M.
Xuất bản năm BMC Ophthalmol (2021)

Rubinstein–Taybi syndrome (CREBBP, EP300)

Bằng van Belzen, Martine, Bartsch, Oliver, Lacombe, Didier, Peters, Dorien J M, Hennekam, Raoul C M
Được phát hành 2011

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

Bằng Komlosi, Katalin, Diederich, Stefan, Fend-Guella, Desiree Lucia, Bartsch, Oliver, Winter, Jennifer, Zechner, Ulrich, Beck, Michael, Meyer, Peter, Schweiger, Susann
Xuất bản năm Orphanet J Rare Dis (2018)

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

Bằng Wilmanns, Christoph, Cooper, Alexis, Wockner, Leesa, Katsandris, Sotirios, Glaser, Nadine, Meyer, Alexander, Bartsch, Oliver, Binder, Harald, Walter, Paul Karl, Zechner, Ulrich
Xuất bản năm EBioMedicine (2015)

CAF-like state in primary skin fibroblasts with constitutional BRCA1 epimutation sheds new light on tumor suppressor deficiency-related changes in healthy tissue

Bằng Etzold, Anna, Galetzka, Danuta, Weis, Eva, Bartsch, Oliver, Haaf, Thomas, Spix, Claudia, Itzel, Timo, Schweiger, Susann, Strand, Dennis, Strand, Susanne, Zechner, Ulrich
Xuất bản năm Epigenetics (2016)

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

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

DELETION MAPPING OF CRITICAL REGION FOR HYPOSPADIAS, PENOSCROTAL TRANSPOSITION AND IMPERFORATE ANUS ON HUMAN CHROMOSOME 13

Bằng Garcia, Nilda M., Allgood, Jocelyn, Santos, Lane J., Lonergan, D., Batanian, J.R., Henkemeyer, Mark, Bartsch, Oliver, Schultz, Roger A., Zinn, Andrew R., Baker, Linda A.
Được phát hành 2006

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

Bằng Rost, Simone, Bach, Elisa, Neuner, Cordula, Nanda, Indrajit, Dysek, Sandra, Bittner, Reginald E, Keller, Alexander, Bartsch, Oliver, Mlynski, Robert, Haaf, Thomas, Müller, Clemens R, Kunstmann, Erdmute
Được phát hành 2014

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

Bằng 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
Được phát hành 2011

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

Bằng 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
Được phát hành 2012

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

Bằng 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
Được phát hành 2013

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

Bằng 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
Xuất bản năm Genet Med (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...

Bằng 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
Xuất bản năm J Immunother Cancer (2021)

FGFR2 mutation in 46,XY sex reversal with craniosynostosis

Bằng Bagheri-Fam, Stefan, Ono, Makoto, Li, Li, Zhao, Liang, Ryan, Janelle, Lai, Raymond, Katsura, Yukako, Rossello, Fernando J., Koopman, Peter, Scherer, Gerd, Bartsch, Oliver, Eswarakumar, Jacob V.P., Harley, Vincent R.
Xuất bản năm Hum Mol Genet (2015)

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

Bằng 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
Xuất bản năm Am J Med Genet A (2018)

Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View

Bằng De Maria, Beatrice, de Jager, Tresia, Sarubbi, Caitlin, Bartsch, Oliver, Bianchi, Alberto, Brancati, Francesco, Chung, Hon-Yin B., David, Albert, Kariminejad, Ariana, Foresti, Maura, Gallottini, Marina, Isidor, Bertrand, Marchegiani, Shannon, Martins, Fabiana, Mazzanti, Laura, Roche, Nathalie, Singh, Ankur, Stevens, Cathy, Suga, Kenichi, Zenker, Martin, Hennekam, Raoul C.
Xuất bản năm Mol Syndromol (2017)

Redefining the MED13L syndrome

Bằng Adegbola, Abidemi, Musante, Luciana, Callewaert, Bert, Maciel, Patricia, Hu, Hao, Isidor, Bertrand, Picker-Minh, Sylvie, Le Caignec, Cedric, Delle Chiaie, Barbara, Vanakker, Olivier, Menten, Björn, Dheedene, Annelies, Bockaert, Nele, Roelens, Filip, Decaestecker, Karin, Silva, João, Soares, Gabriela, Lopes, Fátima, Najmabadi, Hossein, Kahrizi, Kimia, Cox, Gerald F, Angus, Steven P, Staropoli, John F, Fischer, Ute, Suckow, Vanessa, Bartsch, Oliver, Chess, Andrew, Ropers, Hans-Hilger, Wienker, Thomas F, Hübner, Christoph, Kaindl, Angela M, Kalscheuer, Vera M
Xuất bản năm Eur J Hum Genet (2015)