recid:320990 - Résultats de la recherche - RERO DOC

Consortium of Swiss Academic Libraries

Chemo-enzymatic synthesis of lipid-linked GlcNAc2Man5 oligosaccharides using recombinant Alg1, Alg2 and Alg11 proteins

Ramírez, Ana S. ; Boilevin, Jérémy ; Lin, Chia-Wei ; Ha Gan, Bee ; Janser, Daniel ; Aebi, Markus ; Darbre, Tamis ; Reymond, Jean-Louis ; Locher, Kaspar P.

In: Glycobiology, 2017, vol. 27, no. 8, p. 726-733

Consortium of Swiss Academic Libraries

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

Abdalla, Ebtesam ; Rohrbach, Marianne ; Bürer, Céline ; Kraenzlin, Marius ; El-Tayeby, Hazem ; Elbelbesy, Mervat ; Nabil, Amira ; Giunta, Cecilia

In: European Journal of Pediatrics, 2015, vol. 174, no. 1, p. 105-112

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Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Huemer, Martina ; Karall, Daniela ; Schossig, Anna ; Abdenur, Jose ; Al Jasmi, Fatma ; Biagosch, Caroline ; Distelmaier, Felix ; Freisinger, Peter ; Graham, Brett ; Haack, Tobias ; Hauser, Natalie ; Hertecant, Jozef ; Ebrahimi-Fakhari, Darius ; Konstantopoulou, Vassiliki ; Leydiker, Karen ; Lourenco, Charles ; Scholl-Bürgi, Sabine ; Wilichowski, Ekkehard ; Wolf, Nicole ; Wortmann, Saskia ; Taylor, Robert ; Mayr, Johannes ; Bonnen, Penelope ; Sperl, Wolfgang ; Prokisch, Holger ; McFarland, Robert

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 5, p. 905-914

Consortium of Swiss Academic Libraries

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations

Bachmann, Christoph ; Jungbluth, Heinz ; Muntoni, Francesco ; Manzur, Adnan Y. ; Zorzato, Francesco ; Treves, Susan

In: Human Molecular Genetics, 2017, vol. 26, no. 2, p. 320-332

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Secondary NAD+ deficiency in the inherited defect of glutamine synthetase

Hu, Liyan ; Ibrahim, Khalid ; Stucki, Martin ; Frapolli, Michele ; Shahbeck, Noora ; Chaudhry, Farrukh ; Görg, Boris ; Häussinger, Dieter ; Penberthy, W. ; Ben-Omran, Tawfeg ; Häberle, Johannes

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 6, p. 1075-1083

Consortium of Swiss Academic Libraries

Clinical presentation and outcome in a series of 88 patients with the cblC defect

Fischer, Sabine ; Huemer, Martina ; Baumgartner, Matthias ; Deodato, Federica ; Ballhausen, Diana ; Boneh, Avihu ; Burlina, Alberto ; Cerone, Roberto ; Garcia, Paula ; Gökçay, Gülden ; Grünewald, Stephanie ; Häberle, Johannes ; Jaeken, Jaak ; Ketteridge, David ; Lindner, Martin ; Mandel, Hanna ; Martinelli, Diego ; Martins, Esmeralda ; Schwab, Karl ; Gruenert, Sarah ; Schwahn, Bernd ; Sztriha, László ; Tomaske, Maren ; Trefz, Friedrich ; Vilarinho, Laura ; Rosenblatt, David ; Fowler, Brian ; Dionisi-Vici, Carlo

In: Journal of Inherited Metabolic Disease, 2014, vol. 37, no. 5, p. 831-840

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Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?

Poretti, Andrea ; Häusler, Martin ; von Moers, Arpad ; Baumgartner, Bastian ; Zerres, Klaus ; Klein, Andrea ; Aiello, Chiara ; Moro, Francesca ; Zanni, Ginevra ; Santorelli, Filippo ; Huisman, Thierry ; Weis, Joachim ; Valente, Enza ; Bertini, Enrico ; Boltshauser, Eugen

In: The Cerebellum, 2014, vol. 13, no. 1, p. 79-88

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The body dysmorphic disorder patient: to perform rhinoplasty or not?

Ziglinas, Panagiotis ; Menger, Dirk ; Georgalas, Christos

In: European Archives of Oto-Rhino-Laryngology, 2014, vol. 271, no. 9, p. 2355-2358

Consortium of Swiss Academic Libraries

Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion

Cerqueira, Taise Lima Oliveira ; Carré, Aurore ; Chevrier, Lucie ; Szinnai, Gabor ; Tron, Elodie ; Léger, Juliane ; Cabrol, Sylvie ; Queinnec, Chrystelle ; De Roux, Nicolas ; Castanet, Mireille ; Polak, Michel ; Ramos, Helton Estrela

In: Journal of Pediatric Endocrinology and Metabolism, 2015, vol. 28, no. 7-8, p. 777-784

Consortium of Swiss Academic Libraries

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

Basel-Vanagaite, Lina ; Yilmaz, Rüstem ; Tang, Sha ; Reuter, Miriam ; Rahner, Nils ; Grange, Dorothy ; Mortenson, Megan ; Koty, Patrick ; Feenstra, Heather ; Farwell Gonzalez, Kelly ; Sticht, Heinrich ; Boddaert, Nathalie ; Désir, Julie ; Anyane-Yeboa, Kwame ; Zweier, Christiane ; Reis, André ; Kubisch, Christian ; Jewett, Tamison ; Zeng, Wenqi ; Borck, Guntram

In: Human Genetics, 2014, vol. 133, no. 7, p. 939-949

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