| scholarly article | Q13442814 |
| review article | Q7318358 |
| P6179 | Dimensions Publication ID | 1086102476 |
| P356 | DOI | 10.1007/S11427-017-9099-3 |
| P8608 | Fatcat ID | release_27lpxhqbxjc5daerkdyqgfrnq4 |
| P698 | PubMed publication ID | 28639105 |
| P2093 | author name string | Tieliu Shi | |
| Jinmeng Jia | |||
| P2860 | cites work | The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease | Q38373599 |
| Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research? | Q38390841 | ||
| Integrated transcriptome analysis of human iPS cells derived from a fragile X syndrome patient during neuronal differentiation | Q38441936 | ||
| Precision medicine for metastatic breast cancer--limitations and solutions. | Q38551394 | ||
| Practice-based research--"Blue Highways" on the NIH roadmap | Q40249321 | ||
| Industrializing rare disease therapy discovery and development | Q48261810 | ||
| An audience with...Francis Collins. Interviewed by Asher Mullard | Q48451329 | ||
| International Classification of Childhood Cancer, third edition | Q49046725 | ||
| Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation. | Q53267844 | ||
| Preparing for Precision Medicine | Q58045547 | ||
| The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease | Q21819337 | ||
| A new initiative on precision medicine | Q29615654 | ||
| Rare diseases and now rare data? | Q30652877 | ||
| Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR). | Q30832937 | ||
| NIH/NCATS/GRDR® Common Data Elements: A leading force for standardized data collection | Q30913783 | ||
| The Disease Ontology: fostering interoperability between biological and clinical human disease-related data | Q30975553 | ||
| Data quality in rare cancers registration: the report of the RARECARE data quality study | Q31135539 | ||
| Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data | Q31159196 | ||
| Clinical patient registry recruitment and retention: a survey of patients in two chronic disease registries | Q33568343 | ||
| The quality of preventive health care delivered to adults: results from a cross-sectional study in Southern Italy. | Q33611064 | ||
| Towards building a disease-phenotype knowledge base: extracting disease-manifestation relationship from literature. | Q33796471 | ||
| The US Orphan Drug Act: rare disease research stimulator or commercial opportunity? | Q34090111 | ||
| If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). | Q34095613 | ||
| Detecting disease rare alleles using single SNPs in families and haplotyping in unrelated subjects from the Genetic Analysis Workshop 17 data. | Q34176416 | ||
| Addition of multiple rare SNPs to known common variants improves the association between disease and gene in the Genetic Analysis Workshop 17 data | Q34176630 | ||
| Implementation of a population-based epidemiological rare disease registry: study protocol of the amyotrophic lateral sclerosis (ALS)--registry Swabia | Q34588405 | ||
| Funding of rare disease research in Germany: a pilot study | Q35263791 | ||
| The availability and affordability of orphan drugs for rare diseases in China | Q36625632 | ||
| Familial Mediterranean fever is no longer a rare disease in Japan | Q37139961 | ||
| Making Every Subject Count: A Case Study of Drug Development Path for Medication in a Pediatric Rare Disease | Q37404468 | ||
| Emergence of pediatric rare diseases: Review of present policies and opportunities for improvement | Q37599975 | ||
| Development of the SIOPE DIPG network, registry and imaging repository: a collaborative effort to optimize research into a rare and lethal disease | Q37736041 | ||
| Orphan drugs: the regulatory environment | Q38043761 | ||
| Rare-disease genetics in the era of next-generation sequencing: discovery to translation | Q38133704 | ||
| Rare disease policies to improve care for patients in Europe | Q38366063 | ||
| P433 | issue | 7 | |
| P921 | main subject | rare disease | Q929833 |
| data sharing | Q5227350 | ||
| P304 | page(s) | 686-691 | |
| P577 | publication date | 2017-06-16 | |
| P1433 | published in | Science in China. Series C: Life Sciences | Q2619480 |
| P1476 | title | Towards efficiency in rare disease research: what is distinctive and important? | |
| P478 | volume | 60 |
| Q92535669 | Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation |
| Q64102665 | Compound Heterozygous Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea |
| Q64086966 | Growth Pattern in Chinese Children With 5α-Reductase Type 2 Deficiency: A Retrospective Multicenter Study |
| Q92564588 | Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing |
| Q64088327 | Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis |
| Q90050740 | Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature |
| Q60046838 | RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis |
| Q91584212 | Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases |
| Q90399985 | Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria |
| Q61798741 | Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation |
| Q60946938 | Whole-Genome Sequencing Identifies a Novel Variation of Gene Coordinating With Heterozygous Germline Mutation of to Enhance Hepatoblastoma Oncogenesis |
| Q47102658 | eRAM: encyclopedia of rare disease annotations for precision medicine |
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