Solyom, Alexander; Huegle, Boris; Magnusson, Bo et al.
Farber Disease: Important Differential Diagnostic Information for JIA and Other Inflammatory Arthritis Phenotypes Is Revealed By Data from the Largest Clinical Cohort to DateARTHRITIS & RHEUMATOLOGY. Bd. 67. 2015
Bagheri-Fam, Stefan; Ono, Makoto; Li, Li et al.
FGFR2 mutation in 46, XY sex reversal with craniosynostosisHUMAN MOLECULAR GENETICS. Bd. 24. H. 23. 2015 S. 6699-6710
Etzold, Anna; Schroeder, Julia C.; Bartsch, Oliver et al.
Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndromeFAMILIAL CANCER. Bd. 14. H. 1. 2015 S. 161-165
Umlauf, Volker N.; Coerdt, Wiltrud; Leuschner, Ivo et al.
How to Name Papillary Tumors of the Bladder in Children: Transitional Cell Carcinoma or Papillary Urothelial Neoplasm of Low Malignant Potential?UROLOGY. Bd. 86. H. 2. 2015 S. 379-383
Buelow, Luzie; Lissewski, Christina; Bressel, Rainer et al.
Hydrops, Fetal Pleural Effusions and Chylothorax in Three Patients with CBL MutationsAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 167A. H. 2. 2015 S. 394-399
Rymen, Daisy; Winter, Julia; Van Hasselt, Peter M. et al.
Key features and clinical variability of COG6-CDGMOLECULAR GENETICS AND METABOLISM. Bd. 116. H. 3. 2015 S. 163-170
Beck, Michael
Lysosomal storage diseases: treatment optionsMEDIZINISCHE GENETIK. Bd. 27. H. 3. 2015 S. 276-281
Wilmanns, C; Katsandris, S; Cooper, A et al.
Morphologie und Progression der Primären Varikose: Die Bedeutung genetischer Varianten der Methylentetrahydrofolatreduktase (MTHFR).Gefässchirurgie. Bd. 20. H. 5. 2015 S. 370-375
Wilmanns, Christoph; Cooper, Alexis; Wockner, Leesa et al.
Morphology and Progression in Primary Varicose Vein Disorder Due to 677C > T and 1298A > C Variants of MTHFREBIOMEDICINE. Bd. 2. H. 2. 2015 S. 158-164
Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico et al.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesAMERICAN JOURNAL OF HUMAN GENETICS. Bd. 97. H. 1. 2015 S. 99-110