Lv44
740 积分 2023-09-24 加入
An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey
1天前
待确认
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
15天前
已完结
Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster
15天前
已完结
Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy
22天前
已关闭
Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran
28天前
已完结
Frequent Occurrence of the CFTR Intron 8 (TG)n 5T Allele in Men with Congenital Bilateral Absence of the Vas Deferens
1个月前
已关闭
Novel BMP1 , CRTAP , and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta
2个月前
已完结
Structural implications of amyloidogenic rare variants Ser282Leu and Gln356Arg identified in h‐BRCA1
2个月前
已关闭
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
2个月前
已完结
Genotype–phenotype associations in SCN1A -related epilepsies
2个月前
已完结
Advancing Membrane-Associated Protein Docking with Improved Sampling and Scoring in Rosetta
5个月前
已采纳
Evaluation of human exposure and building damage to high-speed train-induced ground-borne vibration based on numerical studies: A comparison with international standards
5个月前
已采纳
Mo/Si multilayers used for the EUV normal incidence solar telescope
5个月前
已采纳
The aryl hydrocarbon receptor as a tumor modulator: mechanisms to therapy
5个月前
已采纳
Bacterial and fungal community compositions and structures of a skatole-degrading culture enriched from pig slurry
5个月前
已采纳
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