Lv1
70 积分 2024-10-16 加入
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
4小时前
待确认
Mutational analysis and clinical correlation in Leber congenital amaurosis
7天前
已完结
Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients
8天前
已完结
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features
8天前
已完结
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features
8天前
已完结
New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family
10天前
已完结
Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences
13天前
已关闭
Unveiling New Clinical and Genetic Insights in Ultra‐Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort
14天前
已完结
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
15天前
已完结
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations
15天前
已关闭
ICESAT/GLAS Altimetry Measurements: Received Signal Dynamic Range and Saturation Correction
14天前
已采纳
Integrated Extreme Real-Time PCR and High-Speed Melting Analysis in 52 to 87 Seconds
14天前
已采纳
High intakes of skimmed milk, but not meat, increase serum IGF-I and IGFBP-3 in eight-year-old boys
14天前
已采纳
Contrast-enhanced ultrasonographic findings of non-occlusive mesenteric ischemia: a case series
14天前
已采纳
Biobased Multilayer Flexible Packaging with Enhanced Gas Barrier Properties due to Cellulose Nanocrystals (CNCs)
14天前
已撤回
Bone development and its relation to fracture repair. The role of mesenchymal osteoblasts and surface osteoblasts
2个月前
已采纳
Unveiling the Over‐Lithiation Behavior of NCM523 Cathode Towards Long‐Life Anode‐Free Li Metal Batteries
2个月前
已采纳
Polarization effects in metallic plates perforated with periodic arrays of subwavelength circular holes
2个月前
已采纳
Stroke Mechanisms in Intracranial Atherosclerotic Disease: A Modified Classification System and Clinical Implications
2个月前
已采纳
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