Lv51
940 积分 2026-01-14 加入
Late Diagnosis of a 3p26.3p25.2 Microduplication in a Young Adult with Mild Neurodevelopmental Features: A Case Report and Literature Review
14小时前
待确认
Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes
2天前
已完结
Genetic defects of human brain development
4天前
已完结
Brown-Vialetto-Van Laere syndrome patients with unusual phenotypes from Indian ethnicity: Functional analysis of clinical variants in SLC52A2 and SLC52A3 genes
7天前
已关闭
[Clinical characteristics and CBS gene analysis of 13 cases with classic homocystinuria]
7天前
已完结
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses
8天前
已完结
Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
9天前
已完结
Novel homozygous LAMB1 in‐frame deletion in a pediatric patient with brain anomalies and cerebrovascular event
16天前
已完结
Prenatal Diagnosis of Neurofibromatosis Type 1: No Specific Prenatal Features Observed in Sporadic Fetal Presentations
21天前
已完结
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
24天前
已完结
Engineering a Pyridinic NNi Single-Atom Catalyst for Efficient Low-Temperature CO2 Methanation
2天前
已采纳
Elastin, arterial mechanics, and cardiovascular disease
20天前
已采纳
Dissociation between abnormal motor synergies and impaired reaching dexterity after stroke
20天前
已采纳
Influence of Metformin on Exercise Metabolism and Capacity: A Systematic Review and Meta-Analysis
20天前
已采纳
Structural Investigation of Tetra-n-Butylammonium Perchlorate
20天前
已采纳
Experimental research progress of electronic band structure and low temperature transport based on molybdenum disulfide
20天前
已采纳
Annual Dynamics of Bird Community at a Coastal Wetland and Their Relation to Habitat Types: The Example of Beidagang Wetland, Northern China
20天前
已采纳
Safe and Highly Efficient Lipid-Pro-Dexamethasone Nanoparticles for mRNA Delivery and Base Editing
20天前
已采纳
《翻译与跨文化互文性：小红书平台上的用户生成翻译》（Translation and transcultural intertextuality: user-generated translation on the Chinese social media platform Xiaohongshu
20天前
已采纳
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