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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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Honorary Doctorate awarded to Prof. Dr. Eberhard PassargeMEDIZINISCHE GENETIK. Bd. 31. H. 3. 2019 S. 351-351
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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
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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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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
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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
Brueggemann, Felix B.; Bartsch, Oliver
A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromesCLINICAL DYSMORPHOLOGY. Bd. 25. H. 2. 2016 S. 50-53