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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
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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
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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
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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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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
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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
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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
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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
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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
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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
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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
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
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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
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
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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