Résultats de la recherche - RERO DOC

Consortium of Swiss Academic Libraries

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

Kretz, Rita ; Bozorgmehr, Bita ; Kariminejad, Mohamad ; Rohrbach, Marianne ; Hausser, Ingrid ; Baumer, Alessandra ; Baumgartner, Matthias ; Giunta, Cecilia ; Kariminejad, Ariana ; Häberle, Johannes

In: Journal of Inherited Metabolic Disease, 2011, vol. 34, no. 3, p. 731-739

Consortium of Swiss Academic Libraries

Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)

Templin, Christian ; Ghadri, Jelena-Rima ; Rougier, Jean-Sébastien ; Baumer, Alessandra ; Kaplan, Vladimir ; Albesa, Maxime ; Sticht, Heinrich ; Rauch, Anita ; Puleo, Colleen ; Hu, Dan ; Barajas-Martinez, Héctor ; Antzelevitch, Charles ; Lüscher, Thomas F. ; Abriel, Hugues ; Duru, Firat

In: European Heart Journal, 2011, vol. 32, no. 9, p. 1077-1088

Consortium of Swiss Academic Libraries

High Level of Unequal Meiotic Crossovers at the Origin of the 22q11.2 and 7q11.23 Deletions

Baumer, Alessandra ; Dutly, Fabrizio ; Balmer, Damina ; Riegel, Mariluce ; Tukel, Türgut ; Krajewska-Walasek, Malgorzata ; Schinzel, Albert A.

In: Human Molecular Genetics, 1998, vol. 7, no. 5, p. 887-894

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