Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?

द्वारा Forny, Patrick, Burda, Patricie, Bode, Peter, Rohrbach, Marianne
में प्रकाशित JIMD Rep (2020)

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers–Danlos Syndrome

द्वारा Lim, Pei Jin, Lindert, Uschi, Opitz, Lennart, Hausser, Ingrid, Rohrbach, Marianne, Giunta, Cecilia
में प्रकाशित Genes (Basel) (2019)

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies

द्वारा Najafi, Arash, Caspar, Sylvan M., Meienberg, Janine, Rohrbach, Marianne, Steinmann, Beat, Matyas, Gabor
में प्रकाशित Clin Genet (2019)

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

द्वारा Rymen, Daisy, Ritelli, Marco, Zoppi, Nicoletta, Cinquina, Valeria, Giunta, Cecilia, Rohrbach, Marianne, Colombi, Marina
में प्रकाशित Genes (Basel) (2019)

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study

द्वारा Abela, Lucia, Plecko, Barbara, Palla, Antonella, Burda, Patricie, Nuoffer, Jean-Marc, Ballhausen, Diana, Rohrbach, Marianne
में प्रकाशित Orphanet J Rare Dis (2014)

Increased augmentation index in patients with Ehlers-Danlos syndrome

द्वारा Roeder, Maurice, Thiel, Sira, Baumann, Frederic, Sievi, Noriane A., Rohrbach, Marianne, Kohler, Malcolm, Gaisl, Thomas
में प्रकाशित BMC Cardiovasc Disord (2020)

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

द्वारा Lindert, Uschi, Kraenzlin, Marius, Campos-Xavier, Ana Belinda, Baumgartner, Matthias R., Bonafé, Luisa, Giunta, Cecilia, Rohrbach, Marianne
में प्रकाशित Orphanet J Rare Dis (2015)

Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta

द्वारा Lindert, Uschi, Weis, Mary Ann, Rai, Jyoti, Seeliger, Frank, Hausser, Ingrid, Leeb, Tosso, Eyre, David, Rohrbach, Marianne, Giunta, Cecilia
में प्रकाशित J Biol Chem (2015)

Paediatric Fabry disease: prognostic significance of ocular changes for disease severity

द्वारा Kalkum, Gisela, Pitz, Susanne, Karabul, Nesrin, Beck, Michael, Pintos-Morell, Guillem, Parini, Rossella, Rohrbach, Marianne, Bizjajeva, Svetlana, Ramaswami, Uma
में प्रकाशित BMC Ophthalmol (2016)

The novel missense mutation Met48Lys in FKBP22 changes its structure and functions

द्वारा Ishikawa, Yoshihiro, Mizuno, Nobuyo, Holden, Paul, Lim, Pei Jin, Gould, Douglas B., Rohrbach, Marianne, Giunta, Cecilia, Bächinger, Hans Peter
में प्रकाशित Sci Rep (2020)

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

द्वारा van Dijk, Fleur S, Byers, Peter H, Dalgleish, Raymond, Malfait, Fransiska, Maugeri, Alessandra, Rohrbach, Marianne, Symoens, Sofie, Sistermans, Erik A, Pals, Gerard
प्रकाशित 2012

Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers–Danlos syndrome

द्वारा Jeong, Jeeyon, Walker, Joel M., Wang, Fudi, Park, J. Genevieve, Palmer, Amy E., Giunta, Cecilia, Rohrbach, Marianne, Steinmann, Beat, Eide, David J.
प्रकाशित 2012

Medical Treatment of Aortic Aneurysms in Marfan Syndrome and other Heritable Conditions

द्वारा Jost, Christine H. Attenhofer, Greutmann, Matthias, Connolly, Heidi M., Weber, Roland, Rohrbach, Marianne, Oxenius, Angela, Kretschmar, Oliver, Luscher, Thomas F., Matyas, Gabor
प्रकाशित 2014

Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey

द्वारा Lagler, Florian B., Moder, Angelika, Rohrbach, Marianne, Hennermann, Julia, Mengel, Eugen, Gökce, Seyfullah, Hundsberger, Thomas, Rösler, Kai M., Karabul, Nesrin, Huemer, Martina
में प्रकाशित JIMD Rep (2019)

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

द्वारा Haug, Patricia, Koller, Samuel, Maggi, Jordi, Lang, Elena, Feil, Silke, Wlodarczyk, Agnès, Bähr, Luzy, Steindl, Katharina, Rohrbach, Marianne, Gerth-Kahlert, Christina, Berger, Wolfgang
में प्रकाशित Genes (Basel) (2021)

Characterization of New ACADSB Gene Sequence Mutations and Clinical Implications in Patients with 2-Methylbutyrylglycinuria Identified by Newborn Screening

द्वारा Alfardan, Jaffar, Mohsen, Al-Walid, Copeland, Sara, Ellison, Jay, Keppen-Davis, Laura, Rohrbach, Marianne, Powell, Berkley R., Gillis, Jane, Matern, Dietrich, Kant, Jeffrey, Vockley, Jerry
प्रकाशित 2010

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

द्वारा Rohrbach, Marianne, Vandersteen, Anthony, Yiş, Uluç, Serdaroglu, Gul, Ataman, Esra, Chopra, Maya, Garcia, Sixto, Jones, Kristi, Kariminejad, Ariana, Kraenzlin, Marius, Marcelis, Carlo, Baumgartner, Matthias, Giunta, Cecilia
प्रकाशित 2011

Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)

द्वारा Ramaswami, Uma, Stull, Donald E, Parini, Rossella, Pintos-Morell, Guillem, Whybra, Catharina, Kalkum, Gisela, Rohrbach, Marianne, Raluy-Callado, Mireia, Beck, Michael, Chen, Wen-Hung, Wiklund, Ingela
प्रकाशित 2012

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta

द्वारा Lim, Pei Jin, Marfurt, Severin, Lindert, Uschi, Opitz, Lennart, Ndarugendamwo, Timothée, Srikanthan, Pakeerathan, Poms, Martin, Hersberger, Martin, Langhans, Claus-Dieter, Haas, Dorothea, Rohrbach, Marianne, Giunta, Cecilia
में प्रकाशित Front Genet (2021)

Molecular Genetics and Metabolism

द्वारा Khan, Shaukat A., Peracha, Hira, Ballhausen, Diana, Wiesbauer, Alfred, Rohrbach, Marianne, Gautschi, Matthias, Mason, Robert W., Giugliani, Roberto, Suzuki, Yasuyuki, Orii, Kenji E., Orii, Tadao, Tomatsu, Shunji
में प्रकाशित Mol Genet Metab (2017)