Lv61
1870 积分 2024-11-14 加入
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
8天前
已完结
Germline CDKN1B variant type and site are associated with phenotype in MEN4
1个月前
已关闭
A novel GPIHBP1 mutation related to familial chylomicronemia syndrome: A series of cases
2个月前
已完结
Glomovenous malformation secondary to a heterozygous nonsense variant in GLMN: a clinical mimicker of blue rubber bleb naevus syndrome
2个月前
已完结
Dual Diagnosis of Sifrim–Hitz–Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim–Hitz–Weiss Syndrome and Quick Literature Review
2个月前
已完结
A Deletion in Duchenne Muscular Dystrophy Gene Found Through Whole Exome Sequencing in Iran
3个月前
已完结
Next-generation DNA sequences identifies mutated FANCD2 Gene as a novel Biomarker for early disease progression in Chronic Myeloid Leukemia patients
3个月前
已完结
Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis
4个月前
已关闭
MECP2-related conditions in males: A systematic literature review and 8 additional cases
5个月前
已完结
Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms
6个月前
已关闭
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