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Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. [electronic resource] by
- Lal, Dennis
- Neubauer, Bernd A
- Toliat, Mohammad R
- Altmüller, Janine
- Thiele, Holger
- Nürnberg, Peter
- Kamrath, Clemens
- Schänzer, Anne
- Sander, Thomas
- Hahn, Andreas
- Nothnagel, Michael
Producer: 20160701
In:
PloS one vol. 11
Availability: No items available.
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18.
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Type 1 diabetes and epilepsy in childhood and adolescence: Do glutamic acid decarboxylase autoantibodies play a role? Data from the German/Austrian/Swiss/Luxembourgian DPV Registry. [electronic resource] by
- de Sousa, Gideon John
- Tittel, Sascha René
- Häusler, Martin
- Holterhus, Paul Martin
- Berger, Gabriele
- Holder, Martin
- Kamrath, Clemens
- Golembowski, Sven
- Herrlinger, Silke
- Holl, Reinhard Walter
Producer: 20210714
In:
Pediatric diabetes vol. 21
Availability: No items available.
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19.
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Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene. [electronic resource] by
- Dhir, Vivek
- Reisch, Nicole
- Bleicken, Caroline M
- Lebl, Jan
- Kamrath, Clemens
- Schwarz, Hans-Peter
- Grötzinger, Joachim
- Sippell, Wolfgang G
- Riepe, Felix G
- Arlt, Wiebke
- Krone, Nils
Producer: 20090825
In:
The Journal of clinical endocrinology and metabolism vol. 94
Availability: No items available.
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20.
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SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. [electronic resource] by
- Fischer-Zirnsak, Björn
- Koenig, Rainer
- Alisch, Franz
- Güneş, Nilay
- Hausser, Ingrid
- Saha, Namrata
- Beck-Woedl, Stefanie
- Haack, Tobias B
- Thiel, Christian
- Kamrath, Clemens
- Tüysüz, Beyhan
- Henning, Stephan
- Mundlos, Stefan
- Hoffmann, Katrin
- Horn, Denise
- Kornak, Uwe
Producer: 20191202
In:
Journal of human genetics vol. 64
Availability: No items available.
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