Lv2
200 积分 2024-11-20 加入
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects
2天前
求助中
Osteosarcoma in an Adolescent With Germline DYNC1H1‐Related Disorder: A Novel Association With Whole Genome and Transcriptome Tumour Analysis
4天前
已完结
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
4天前
已完结
Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation
5天前
已完结
[A case of CHARGE syndrome confirmed by ophthalmology]
6天前
已完结
Genetic analysis of a fetus pedigree affected with Thyroid dyshormonogenesis type 5 combined with familial Neurofibromatosis type 1
7天前
已关闭
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
7天前
已完结
Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine
1个月前
已完结
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations
1个月前
已关闭
Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants
1个月前
已完结
A Phase 2 Study of Ianalumab in Patients with Primary Immune Thrombocytopenia Previously Treated with at Least Two Lines of Therapy: Interim Results from VAYHIT3
4天前
已采纳
Vincristine Overcomes Cytarabine Resistance in Acute Myeloid Leukemia By Suppression of ARHGAP18-Mediated Cellular Senescence
4天前
已采纳
Developing an Optimal Fully-Human CD371-Targeting IL-18 Secreting CAR T Cell for the Treatment of Acute Myeloid Leukemia
4天前
已采纳
Psychological Distress in Young Adults with Acute Myeloid Leukemia Undergoing Induction Chemotherapy
4天前
已采纳
Clinical Characteristics and Late-Line Treatment Patterns of Patients with Chronic Myeloid Leukemia Who Received 2 Prior Lines of Tyrosine Kinase Inhibitor Therapy in US Community Oncology Practices
4天前
已采纳
Ruxolitinib Therapy during Hematopoietic Cell Transplantation for Myelofibrosis
4天前
已采纳
Direct and Highly Selective Conversion of Synthesis Gas into Lower Olefins: Design of a Bifunctional Catalyst Combining Methanol Synthesis and Carbon-Carbon Coupling
4天前
已采纳
Preserved in a Shell: High-Performance Graphene-Confined Ruthenium Nanoparticles in Acetylene Hydrochlorination
4天前
已采纳
Enhancing Photo‐Stability of All‐Perovskite Tandem Solar Cells via In Situ Construction PEDOT Hole Transport Channels
4天前
已采纳
Generative ai and open-source distribution to put evaluation tools in the hands of clinicians and patients: ostomy output consistency scale
4天前
已采纳
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