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First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype AssociationJOURNAL OF CLINICAL MEDICINE. Bd. 11. H. 1. 2022
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Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6CLINICAL GENETICS. 2022
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p HYPERMETHYLATION OF RAD9A INTRON 2 IN CHILDHOOD CANCER PATIENTS, LEUKEMIA AND TUMOR CELL LINES SUGGEST A ROLE FOR ONCOGENIC TRANSFORMATIONEXCLI JOURNAL. Bd. 21. 2022 S. 117-143
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Resilience and the Gut Microbiome: Insights from Chronically Socially Stressed Wild-Type MiceMICROORGANISMS. Bd. 10. H. 6. 2022
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Selective targeting of chronic social stress-induced activated neurons identifies neurogenesis-related genes to be associated with resilience in female micePSYCHONEUROENDOCRINOLOGY. Bd. 139. 2022
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The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experienceEUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 30. H. 7. 2022 S. 841-847
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A deeper look into natural sciences with physics-based and data-driven measuresISCIENCE. Bd. 24. H. 3. 2021
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Amino Acid Substitution in the C-terminus of Keratin 2 causes dominant acral IchthyosisJOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT. Bd. 19. 2021 S. 7-7
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Dichotomic Hippocampal Transcriptome After Glutamatergic vs. GABAergic Deletion of the Cannabinoid CB1 ReceptorFRONTIERS IN SYNAPTIC NEUROSCIENCE. Bd. 13. 2021
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Early life adversity targets the transcriptional signature of hippocampal NG2+ glia and affects voltage gated sodium (Na-v) channels propertiesNEUROBIOLOGY OF STRESS. Bd. 15. 2021
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Early life stress targets the transcriptional signature and functional properties of voltage gated-sodium (nav) channels in hippocampal NG2+GLIAEUROPEAN NEUROPSYCHOPHARMACOLOGY. Bd. 53. 2021 S. S136-S137
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First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature reviewBMC OPHTHALMOLOGY. Bd. 21. H. 1. 2021
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Genomic basis for drought resistance in European beech forests threatened by climate changeELIFE. Bd. 10. 2021
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INTACT vs. FANS for Cell-Type-Specific Nuclei Sorting: A Comprehensive Qualitative and Quantitative ComparisonINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Bd. 22. H. 10. 2021
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IntelliPy: a GUI for analyzing IntelliCage dataBIOINFORMATICS. Bd. 37. H. 21. 2021 S. 3972-3973
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Lipid presentation by the protein C receptor links coagulation with autoimmunitySCIENCE. Bd. 371. H. 6534. 2021 S. 1121-+
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mTOR Driven Gene Transcription Is Required for Cholesterol Production in Neurons of the Developing Cerebral CortexINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Bd. 22. H. 11. 2021
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N-6 -Methyladenosine Modification in Chronic Stress Response Due to Social Hierarchy Positioning of MiceFRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. Bd. 9. 2021
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POLRMT mutations impair mitochondrial transcription causing neurological diseaseNATURE COMMUNICATIONS. Bd. 12. H. 1. 2021
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Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelinesBMC GENOMICS. Bd. 22. H. 1. 2021
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Results of childhood glaucoma surgery over a long-term periodACTA OPHTHALMOLOGICA. Bd. 100. H. 2. 2021 S. E448-E454
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Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensusMOLECULAR GENETICS AND METABOLISM. Bd. 132. H. 4. 2021 S. 234-243
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The gut microbiota instructs the hepatic endothelial cell transcriptomeISCIENCE. Bd. 24. H. 10. 2021
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Transcriptional signatures in prefrontal cortex confer vulnerability versus resilience to food and cocaine addiction-like behaviorSCIENTIFIC REPORTS. Bd. 11. H. 1. 2021
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Voluntary Wheel Running Did Not Alter Gene Expression in 5xfad Mice, but in Wild-Type Animals Exclusively after One-Day of Physical ActivityCELLS. Bd. 10. H. 3. 2021
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A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literatureAMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2020
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A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibitionMOLECULAR GENETICS AND METABOLISM. Bd. 130. H. 1. 2020 S. 27-35
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A specific prelimbic-nucleus accumbens pathway controls resilience versus vulnerability to food addictionNATURE COMMUNICATIONS. Bd. 11. H. 1. 2020
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Applying univariate vs. multivariate statistics to investigate therapeutic efficacy in (pre)clinical trials: A Monte Carlo simulation study on the example of a controlled preclinical neurotrauma trialPLOS ONE. Bd. 15. H. 3. 2020
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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutationsJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. Bd. 146. H. 4. 2020 S. 901-911
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Characterization of the Clinical and Immunological Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 MutationsJOURNAL OF CLINICAL IMMUNOLOGY. Bd. 40. H. SUPPL 1. 2020 S. S57-S59
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Common Factors in Neurodegeneration: A Meta-Study Revealing Shared Patterns on a Multi-Omics ScaleCELLS. Bd. 9. H. 12. 2020
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Common Factors in Neurodegeneration: A Meta-Study revealing Shared Patterns on a Multi-Omics ScaleCells. Bd. 9 (12). 2020 S. 2642
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Comprehensivegenotype-phenotypecorrelation inAP-4 deficiency syndrome; Adding data from a large cohort of Iranian patientsCLINICAL GENETICS. 2020
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Dynamic longitudinal behavior in animals exposed to chronic social defeat stressPLOS ONE. Bd. 15. H. 7. 2020
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Dynamic longitudinal behaviour in animals exposed to chronic social defeat stressPlos One. Bd. 15. 2020 S. 7
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Genetic findings in miscarriages and their relation to the number of previous miscarriagesARCHIVES OF GYNECOLOGY AND OBSTETRICS. 2020
Kiouptsi, Klytaimnistra; Pontarollo, Giulia; Todorov, Hristo et al.
Germ-free housing conditions do not affect aortic root and aortic arch lesion size of late atherosclerotic low-density lipoprotein receptor-deficient miceGUT MICROBES. Bd. 11. H. 6. 2020 S. 1809-1823
Gucev, Zoran; Tasic, Velibor; Bogevska, Ivona et al.
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutationEUROPEAN JOURNAL OF MEDICAL GENETICS. Bd. 63. H. 1. 2020
Guilherme, Malena dos Santos; Todorov, Hristo; Osterhof, Carina et al.
Impact of Acute and Chronic Amyloid-beta Peptide Exposure on Gut Microbial Commensals in the MouseFRONTIERS IN MICROBIOLOGY. Bd. 11. 2020
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Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndromeNATURE COMMUNICATIONS. Bd. 11. H. 1. 2020
Fischer, Caroline; Endle, Heiko; Schumann, Lana et al.
Prevention of age-associated neuronal hyperexcitability with improved learning and attention upon knockout or antagonism of LPAR2CELLULAR AND MOLECULAR LIFE SCIENCES. 2020
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Rbfox1 Is Expressed in the Mouse Brain in the Form of Multiple Transcript Variants and Contains Functional E Boxes in Its Alternative PromotersFRONTIERS IN MOLECULAR NEUROSCIENCE. Bd. 13. 2020
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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individualsAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 182. H. 9. 2020 S. 2068-2076
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Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disabilityMOLECULAR GENETICS & GENOMIC MEDICINE. Bd. 8. H. 10. 2020
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18F-FDG PET/CT: an unexpected case of Huntington's diseaseBMC NEUROLOGY. Bd. 19. 2019
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Intrafamilial variability of neuropsychiatric symptoms associated with the microduplication of chromosome 16p11.2EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 27. 2019 S. 268-268
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Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defectCLINICAL DYSMORPHOLOGY. Bd. 28. H. 3. 2019 S. 135-139
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The Clinical and Molecular Spectrum of GM1 GangliosidosisJOURNAL OF PEDIATRICS. Bd. 215. 2019 S. 152-+
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Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplicationCLINICAL DYSMORPHOLOGY. Bd. 28. H. 3. 2019 S. 140-142
Piard, Juliette; Lespinasse, James; Vlckova, Marketa et al.
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 176. H. 3. 2018 S. 668-675
Borgwardt, Line; Guffon, Nathalie; Amraoui, Yasmina et al.
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trialJOURNAL OF INHERITED METABOLIC DISEASE. Bd. 41. H. 6. 2018 S. 1215-1223
Arnoux, Isabelle; Willam, Michael; Griesche, Nadine et al.
Metformin reverses early cortical network dysfunction and behavior changes in Huntington's diseaseELIFE. Bd. 7. 2018
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Sema3a plays a role in the pathogenesis of CHARGE syndromeHUMAN MOLECULAR GENETICS. Bd. 27. H. 8. 2018 S. 1343-1352
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Superovulation Influences Methylation Reprogramming and Delays Onset of DNA Replication in Both Pronuclei of Mouse ZygotesCYTOGENETIC AND GENOME RESEARCH. Bd. 156. H. 2. 2018 S. 95-105
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Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disordersORPHANET JOURNAL OF RARE DISEASES. Bd. 13. 2018
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Targeted next-generation sequencing of cancer genes in poorly differentiated thyroid cancerENDOCRINE CONNECTIONS. Bd. 7. H. 1. 2018 S. 47-55
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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementHUMAN GENETICS. Bd. 137. H. 2. 2018 S. 111-127
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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management (vol 137, pg 111, 2018)HUMAN GENETICS. Bd. 137. H. 3. 2018 S. 279-280
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Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's ViewMOLECULAR SYNDROMOLOGY. Bd. 8. H. 4. 2017 S. 172-178
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De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocationCLINICAL DYSMORPHOLOGY. Bd. 26. H. 3. 2017 S. 187-189
Zechner, Ulrich; Bartsch, Oliver; Iurian, Sorin Ioan
Girl With Ectopia Lentis, and Possibly Marfan Syndrome, caused by a FBN1 Gene MutationEUROPEAN JOURNAL OF PEDIATRICS. Bd. 176. H. 11. 2017 S. 1496-1497
Abdalla, Ebtesam; Bartsch, Oliver; Galetzka, Danuta et al.
Novel Clinical Findings in the First Egyptian Case of Sotos Syndrome Caused by Complete Deletion of the NSD1 GeneAMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 173. H. 4. 2017 S. 1090-1093
Menzel, Lutz; Kleber, Lisa; Friedrich, Carina et al.
Progranulin Protects Against Exaggerated Axonal Injury and Astrogliosis Following Traumatic Brain InjuryGLIA. Bd. 65. H. 2. 2017 S. 278-292
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Progranulin protects against exaggerated axonal injury and astrogliosis following traumatic brain injury in miceGLIA. Bd. 65. 2017 S. E180-E181
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Resveratrol induces dephosphorylation of Tau by interfering with the MID1-PP2A complexSCIENTIFIC REPORTS. Bd. 7. 2017
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A Case of Rubinstein-Taybi Syndrome and Neuroblastoma with Heterozygous EX1 Deletion; Ex4-Ex16 Duplication Crebbp MutationPEDIATRIC BLOOD & CANCER. Bd. 63. 2016 S. S204-S204
Brueggemann, Felix B.; Bartsch, Oliver
A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromesCLINICAL DYSMORPHOLOGY. Bd. 25. H. 2. 2016 S. 50-53
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Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) DeficiencyPLOS ONE. Bd. 11. H. 3. 2016
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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
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Chest CT for suspected pulmonary complications of oncologic therapies: how I review and reportCANCER IMAGING. Bd. 16. 2016
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Chest Radiograph as Diagnostic Clue in a Floppy InfantJOURNAL OF PEDIATRICS. Bd. 177. 2016 S. 324-+
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Confirmation of PDZD7 as a Nonsyndromic Hearing Loss GeneEAR AND HEARING. Bd. 37. H. 4. 2016 S. E238-E246
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Homozygous YME1L1 Mutation Causes Mitochondriopathy with Optic Atrophy and Mitochondrial Network FragmentationELIFE. Bd. 5. 2016
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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
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Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulationClinical epigenetics. Bd. 8. H. 1. S.l.: BioMed Central 2016 Art. 47
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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
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Longitudinal analysis of bone metabolism using SPECT/CT and Tc-99m-diphosphonopropanedicarboxylic acid: comparison of visual and quantitative analysisEJNMMI RESEARCH. Bd. 6. 2016
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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
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Paediatric Fabry disease: prognostic significance of ocular changes for disease severityBMC OPHTHALMOLOGY. Bd. 16. 2016
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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
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Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosisCLINICAL GENETICS. Bd. 90. H. 4. 2016 S. 334-342
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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
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Congenital Sensorineural Deafness with Microtia and Michel-AplasiaLARYNGO-RHINO-OTOLOGIE. Bd. 94. H. 3. 2015 S. 182-183
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Dppa3 expression is critical for generation of fully reprogrammed iPS cells and maintenance of Dlk1-Dio3 imprintingNATURE COMMUNICATIONS. Bd. 6. 2015
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Eight-year follow-up of neuropsychiatric symptoms and brain structural changes in Fabry diseasePLoS one. Bd. 10. H. 9. Lawrence, Kan.: PLoS 2015 e0137603
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Enzyme replacement and gene therapy for mucopolysaccharidoses: current progress and future directionsEXPERT OPINION ON ORPHAN DRUGS. Bd. 3. H. 4. 2015 S. 433-444
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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
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FGFR2 mutation in 46, XY sex reversal with craniosynostosisHUMAN MOLECULAR GENETICS. Bd. 24. H. 23. 2015 S. 6699-6710
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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
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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