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Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. [electronic resource] by
- Köhler, Birgit
- Lin, Lin
- Ferraz-de-Souza, Bruno
- Wieacker, Peter
- Heidemann, Peter
- Schröder, Vanessa
- Biebermann, Heike
- Schnabel, Dirk
- Grüters, Annette
- Achermann, John C
Producer: 20080206
In:
Human mutation vol. 29
Availability: No items available.
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Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation. [electronic resource] by
- Müller, Eva
- Dunstheimer, Desiree
- Klammt, Jürgen
- Friebe, Daniela
- Kiess, Wieland
- Kratzsch, Jürgen
- Kruis, Tassilo
- Laue, Sandy
- Pfäffle, Roland
- Wallborn, Tillmann
- Heidemann, Peter H
Producer: 20121022
In:
PloS one vol. 7
Availability: No items available.
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Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. [electronic resource] by
- Hansske, Bengt
- Thiel, Christian
- Lübke, Torben
- Hasilik, Martin
- Höning, Stefan
- Peters, Verena
- Heidemann, Peter H
- Hoffmann, Georg F
- Berger, Eric G
- von Figura, Kurt
- Körner, Christian
Producer: 20020418
In:
The Journal of clinical investigation vol. 109
Availability: No items available.
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Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey. [electronic resource] by
- Raue, Friedhelm
- Pichl, Josef
- Dörr, Helmuth-G
- Schnabel, Dirk
- Heidemann, Peter
- Hammersen, Gerhard
- Jaursch-Hancke, Cornelia
- Santen, Reinhard
- Schöfl, Christof
- Wabitsch, Martin
- Haag, Christine
- Schulze, Egbert
- Frank-Raue, Karin
Producer: 20120305
In:
Clinical endocrinology vol. 75
Availability: No items available.
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Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. [electronic resource] by
- Gambineri, Eleonora
- Perroni, Lucia
- Passerini, Laura
- Bianchi, Lucia
- Doglioni, Claudio
- Meschi, Franco
- Bonfanti, Riccardo
- Sznajer, Yves
- Tommasini, Alberto
- Lawitschka, Anita
- Junker, Anne
- Dunstheimer, Desiree
- Heidemann, Peter H
- Cazzola, Giantonio
- Cipolli, Marco
- Friedrich, Wilhelm
- Janic, Dragana
- Azzi, Nadira
- Richmond, Erick
- Vignola, Silvia
- Barabino, Arrigo
- Chiumello, Giuseppe
- Azzari, Chiara
- Roncarolo, Maria-Grazia
- Bacchetta, Rosa
Producer: 20090123
In:
The Journal of allergy and clinical immunology vol. 122
Availability: No items available.
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