Motzek, Antje; Knezevic, Jelena; Switzeny, Olivier J. et al.
Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) DeficiencyPLOS ONE. Bd. 11. H. 3. 2016
Etzold, Anna; Galetzka, Danuta; Weis, Eva et al.
CAF-like state in primary skin fibroblasts with constitutional BRCA1 epimutation sheds new light on tumor suppressor deficiency-related changes in healthy tissueEPIGENETICS. Bd. 11. H. 2. 2016 S. 120-131
Diederich, Stefan
Chest CT for suspected pulmonary complications of oncologic therapies: how I review and reportCANCER IMAGING. Bd. 16. 2016
Schmeh, Isabella; Kidszun, Andre; Lausch, Ekkehart et al.
Chest Radiograph as Diagnostic Clue in a Floppy InfantJOURNAL OF PEDIATRICS. Bd. 177. 2016 S. 324-+
Vona, Barbara; Lechno, Stanislav; Hofrichter, Michaela A. H. et al.
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss GeneEAR AND HEARING. Bd. 37. H. 4. 2016 S. E238-E246
Hartmann, Bianca; Wai, Timothy; Hu, Hao et al.
Homozygous YME1L1 Mutation Causes Mitochondriopathy with Optic Atrophy and Mitochondrial Network FragmentationELIFE. Bd. 5. 2016
Wenzel, Manuel; Schuele, Martin; Casanovas, Sonia et al.
Identification of a classic nuclear localization signal at the N terminus that regulates the subcellular localization of Rbfox2 isoforms during differentiation of NMuMG and P19 cellsFEBS LETTERS. Bd. 590. H. 24. 2016 S. 4453-4460
Bohne, Florian; Langer, David; Martiné, Ursula et al.
Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulationClinical epigenetics. Bd. 8. H. 1. S.l.: BioMed Central 2016 Art. 47
Hadzsiev, Kinga; Komlosi, Katalin; Czako, Marta et al.
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotypeMOLECULAR CYTOGENETICS. Bd. 9. 2016
Bagheri-Fam, Stefan; Ono, Makoto; Li, Li et al.
Ligand-independent activation of FGFR2c leads to XY sex reversal in humans and miceCLINICAL ENDOCRINOLOGY. Bd. 84. 2016 S. 29-29
Beck, Michael; Sanders, James C.; Ritt, Philipp et al.
Longitudinal analysis of bone metabolism using SPECT/CT and Tc-99m-diphosphonopropanedicarboxylic acid: comparison of visual and quantitative analysisEJNMMI RESEARCH. Bd. 6. 2016
Iqbal, Zafar; Puettmann, Lucia; Musante, Luciana et al.
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegenerationEUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 24. H. 3. 2016 S. 392-399
Kalkum, Gisela; Pitz, Susanne; Karabul, Nesrin et al.
Paediatric Fabry disease: prognostic significance of ocular changes for disease severityBMC OPHTHALMOLOGY. Bd. 16. 2016
Fergelot, Patricia; Van Belzen, Martine; Van Gils, Julien et al.
Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 MutationsAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 170. H. 12. 2016 S. 3069-3082
Boppudi, S.; Boegershausen, N.; Hove, H. B. et al.
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosisCLINICAL GENETICS. Bd. 90. H. 4. 2016 S. 334-342
Winter, Jennifer; Basilicata, M. Felicia; Stemmler, Marc P. et al.
The MID1 protein is a central player during development and in diseaseFRONTIERS IN BIOSCIENCE-LANDMARK. Bd. 21. 2016 S. 664-682
Keilmann, Annerose; Laessig, Anne K.; Pollak-Hainz, Anja et al.
Adenoids of patients with mucopolysaccharidoses demonstrate typical alterationsINTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. Bd. 79. H. 2. 2015 S. 115-118
Laessig, A. K.; Bartsch, O.; Zechner, U. et al.
Congenital Sensorineural Deafness with Microtia and Michel-AplasiaLARYNGO-RHINO-OTOLOGIE. Bd. 94. H. 3. 2015 S. 182-183
Xu, Xingbo; Smorag, Lukasz; Nakamura, Toshinobu et al.
Dppa3 expression is critical for generation of fully reprogrammed iPS cells and maintenance of Dlk1-Dio3 imprintingNATURE COMMUNICATIONS. Bd. 6. 2015
Lelieveld, Irene M.; Böttcher, Anna; Hennermann, Julia B. et al.
Eight-year follow-up of neuropsychiatric symptoms and brain structural changes in Fabry diseasePLoS one. Bd. 10. H. 9. Lawrence, Kan.: PLoS 2015 e0137603
Beck, Michael
Enzyme replacement and gene therapy for mucopolysaccharidoses: current progress and future directionsEXPERT OPINION ON ORPHAN DRUGS. Bd. 3. H. 4. 2015 S. 433-444
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