| Patient preferences in genetic newborn screening for rare diseases: study protocol |
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| A second case report of medulloblastoma in a patient carrying biallelic pathogenic MUTYH germline variants |
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| Intractable diarrhea in infancy and molecular analysis: We are beyond the tip of the iceberg |
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| Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms |
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| Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome |
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| Use of Machine Learning Techniques on Aerial Imagery for the Extraction of Photovoltaic Data within the Urban Morphology |
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| PATZ1-Rearranged Tumors of the Central Nervous System: Characterization of a Pediatric Series of Seven Cases |
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| Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency |
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| Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease |
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| Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature |
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| Spliceosome malfunction causes neurodevelopmental disorders with overlapping features |
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| Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle |
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| Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant |
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| Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant |
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| Genetic Variability of SOX10 -Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome |
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| DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism |
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| Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions |
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| Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children |
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| First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review |
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| Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants—differential diagnosis and recommendation for biochemical and genetic screening |
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| Non-Invasive Prenatal Test Analysis Opens a Pandora’s Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome |
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| Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 |
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| Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study) |
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| Process Cooling Market in Europe: Assessment of the Final Energy Consumption for the Year 2016 |
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| Process Cooling Market in Europe: Assessment of the Final Energy Consumption for the Year 2016 |
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| Potential Evolution of the Cooling Market in the EU27+UK: An Outlook until 2030 |
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| Recent Advances in District Cooling Diffusion in the EU27+UK: An Assessment of the Market |
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| Screening of Cooling Technologies in Europe: Alternatives to Vapour Compression and Possible Market Developments |
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| Space Cooling Market in Europe: Assessment of the Final Energy Consumption for the Year 2016 |
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| A Spatially-Explicit Economic and Financial Assessment of Closed-Loop Ground-Source Geothermal Heat Pumps: A Case Study for the Residential Buildings of Valle d’Aosta Region |
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| Thromboembolism after COVID-19 vaccine in patients with preexisting thrombocytopenia |
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| A bottom-up spatially explicit methodology to estimate the space heating demand of the building stock at regional scale |
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| Assessment of the Space Heating and Domestic Hot Water Market in Europe—Open Data and Results |
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| Greenhouse Crop Identification from Multi-Temporal Multi-Sensor Satellite Imagery Using Object-Based Approach: A Case Study from Almería (Spain) |
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| Greenhouse crop identification from multi-temporal multi-sensor satellite imagery using object-based approach: A case study from Almería (Spain) |
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| Improving georeferencing accuracy of Very High Resolution satellite imagery using freely available ancillary data at global coverage |
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| Durum wheat cover analysis in the scope of policy and market price changes: A case study in Southern Italy |
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| AssesSeg—A Command Line Tool to Quantify Image Segmentation Quality: A Test Carried Out in Southern Spain from Satellite Imagery |
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| AssesSeg—A Command Line Tool to Quantify Image Segmentation Quality: A Test Carried Out in Southern Spain from Satellite Imagery |
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| Land use change impact on flooding areas: The case study of cervaro basin (Italy) |
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| Performance evaluation of object based greenhouse detection from Sentinel-2 MSI and Landsat 8 OLI data: A case study from Almería (Spain) |
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| Object-based greenhouse mapping using very high resolution satellite data and Landsat 8 time series |
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| A WEBGIS FRAMEWORK FOR DISSEMINATING PROCESSED REMOTELY SENSED ON LAND COVER TRANSFORMATIONS |
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| Object-Based Greenhouse Mapping Using Very High Resolution Satellite Data and Landsat 8 Time Series |
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| A data fusion algorithm based on the Kalman filter to estimate leaf area index evolution in durum wheat by using field measurements and MODIS surface reflectance data |
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| Combining ad hoc spectral indices based on LANDSAT-8 OLI/TIRS sensor data for the detection of plastic cover vineyard |
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| Comparing the MLC and JavaNNS approaches in classifying multi-temporal LANDSAT satellite imagery over an ephemeral river area |
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| Cocaine dependent individuals and gamblers present different associative learning anomalies in feedback-driven decision making: a behavioral and ERP study |
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