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60 résultats 1 2 3 4 5 .. 6
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Consortium of Swiss Academic Libraries

Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature

Tarnutzer, A. ; Gerth-Kahlert, C. ; Timmann, D. ; Chang, D. ; Harmuth, F. ; Bauer, P. ; Straumann, D. ; Synofzik, M.

In: Journal of Neurology, 2015, vol. 262, no. 1, p. 194-202

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GLUT2, glucose sensing and glucose homeostasis

Thorens, Bernard

In: Diabetologia, 2015, vol. 58, no. 2, p. 221-232

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Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Bedoni, Nicola ; Haer-Wigman, Lonneke ; Vaclavik, Veronika ; Tran, Viet H. ; Farinelli, Pietro ; Balzano, Sara ; Royer-Bertrand, Beryl ; El-Asrag, Mohammed E. ; Bonny, Olivier ; Ikonomidis, Christos ; Litzistorf, Yan ; Nikopoulos, Konstantinos ; Yioti, Georgia G. ; Stefaniotou, Maria I. ; McKibbin, Martin ; Booth, Adam P. ; Ellingford, Jamie M. ; Black, Graeme C. ; Toomes, Carmel ; Inglehearn, Chris F. ; Hoyng, Carel B. ; Bax, Nathalie ; Klaver, Caroline C.W. ; Thiadens, Alberta A. ; Murisier, Fabien ; Schorderet, Daniel F. ; Ali, Manir ; Cremers, Frans P.M. ; Andréasson, Sten ; Munier, Francis L. ; Rivolta, Carlo

In: Human Molecular Genetics, 2016, vol. 25, no. 20, p. 4546-4555

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Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

Ansar, Muhammad ; Chung, Hyunglok ; Waryah, Yar M. ; Makrythanasis, Periklis ; Falconnet, Emilie ; Rao, Ali Raza ; Guipponi, Michel ; Narsani, Ashok K. ; Fingerhut, Ralph ; Santoni, Federico A. ; Ranza, Emmanuelle ; Waryah, Ali M. ; Bellen, Hugo J. ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 2018, vol. 27, no. 15, p. 2703-2711

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Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy

Laemmle, Alexander ; Balmer, Christian ; Doell, Carsten ; Sass, Jörn ; Häberle, Johannes ; Baumgartner, Matthias

In: European Journal of Pediatrics, 2014, vol. 173, no. 7, p. 971-974

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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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Acute necrotizing encephalopathy (ANE1): rare autosomal-dominant disorder presenting as acute transverse myelitis

Wolf, Katharina ; Schmitt-Mechelke, Thomas ; Kollias, Spyridon ; Curt, Armin

In: Journal of Neurology, 2013, vol. 260, no. 6, p. 1545-1553

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Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient

Rimella-Le-Huu, A. ; Henry, H. ; Kern, I. ; Hanquinet, S. ; Roulet-Perez, E. ; Newman, C. ; Superti-Furga, A. ; Bonafé, L. ; Ballhausen, D.

In: Journal of Inherited Metabolic Disease, 2008, vol. 31, p. 381-386

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Epidermal growth factor receptors: function modulation by phosphorylation and glycosylation interplay

Kaleem, Afshan ; Ahmad, Ishtiaq ; Hoessli, Daniel ; Walker-Nasir, Evelyne ; Saleem, Muhammad ; Shakoori, Abdul ; Nasir-ud-Din

In: Molecular Biology Reports, 2009, vol. 36, no. 4, p. 631-639

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Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene

El Matri, Leila ; Ambresin, Aude ; Schorderet, Daniel ; Kawasaki, Aki ; Seeliger, Mathias ; Wenzel, Andreas ; Arsenijevic, Yvan ; Borruat, François‐Xavier ; Munier, Francis

In: Graefe's Archive for Clinical and Experimental Ophthalmology, 2006, vol. 244, no. 9, p. 1104-1112

60 résultats 1 2 3 4 5 .. 6