Lv46
600 积分 2022-03-31 加入
Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing
2天前
已完结
MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever
4天前
已完结
X-Linked Alport Syndrome
4天前
已完结
Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders
5天前
已完结
Novel Mutations of TSPY1 Gene Associate Spermatogenic Failure Among Men
5天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
14天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
14天前
已完结
Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene
18天前
已完结
Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization
18天前
已完结
Newborn screening of maple syrup urine disease and the effect of early diagnosis
24天前
已完结
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