Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I

Por Kranz, Christian, Denecke, Jonas, Lehle, Ludwig, Sohlbach, Kristina, Jeske, Stefanie, Meinhardt, Friedhelm, Rossi, Rainer, Gudowius, Sonja, Marquardt, Thorsten
Publicado em 2004

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insuffici...

Por Köhler, Birgit, Lin, Lin, Mazen, Inas, Cetindag, Cigdem, Biebermann, Heike, Akkurt, Ilker, Rossi, Rainer, Hiort, Olaf, Grüters, Annette, Achermann, John C
Publicado em 2009

Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21

Por Grohmann, Katja, Wienker, Thomas F., Saar, Kathrin, Rudnik-Schöneborn, Sabine, Stoltenburg-Didinger, Gisela, Rossi, Rainer, Novelli, Giuseppe, Nürnberg, Gudrun, Pfeufer, Arne, Wirth, Brunhilde, Reis, André, Zerres, Klaus, Hübner, Christoph
Publicado em 1999