Lv3
202 积分 2024-10-16 加入
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
1天前
已完结
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
1天前
求助中
Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis
6天前
已关闭
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients
7天前
已完结
Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study
12天前
已完结
Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population
15天前
已完结
Clinical and diagnostic utility of genomic sequencing for children referred to a Kidney Genomics Clinic with microscopic haematuria
18天前
已完结
Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome
21天前
已完结
Functional consequence and therapeutic targeting of cryptic ALK fusions in monosomy 7 acute myeloid leukemia
28天前
已完结
Molecular diagnosis of hereditary canalicular cholestasis and familial hyperbilirubinemias
29天前
已关闭
Controllable synthesis of molybdenum carbide nanoparticles embedded in porous graphitized carbon matrixes as efficient electrocatalyst for hydrogen evolution reaction
1个月前
已采纳
Phosphorus release from lake sediments: Effects of pH, temperature and dissolved oxygen
2个月前
已采纳
Frailty index as a predictive preoperative tool in the elder population undergoing major abdominal surgery: a prospective analysis of clinical utility
2个月前
已采纳
In vitro and in vivo evaluation of an in situ gel forming system for the delivery of PEGylated octreotide
2个月前
已采纳
Outcomes and risk factors of massive and submassive pulmonary embolism in children: a retrospective cohort study
2个月前
已采纳
Variation of carbon and isotope natural abundances (δ15N and δ13C) of whole-plant sweet potato (Ipomoea batatas L.) subjected to prolonged water stress
2个月前
已采纳
The music of speech: Music training facilitates pitch processing in both music and language
2个月前
已采纳
Fusaripeptide A: new antifungal and anti-malarial cyclodepsipeptide from the endophytic fungusFusarium sp
2个月前
已采纳
Making the ‘Invisible’ Visible: Redevelopment‐induced Displacement of Migrants in Shenzhen, China
2个月前
已采纳
Design, Synthesis and Cytotoxic Activities of Pyrazole‐Perimidine Hybrids
2个月前
已采纳
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