Lv43
430 积分 2025-06-26 加入
Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome
7天前
已完结
Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study
13天前
已完结
Relationship of the Human Growth Hormone Receptor Exon 3 Genotype with Final Adult Height and Bone Mineral Density
14天前
已完结
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism
27天前
已完结
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients
1个月前
已完结
Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series
1个月前
已完结
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex
1个月前
已完结
Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China
1个月前
已完结
Prognostic significance of ACTN3 genotype in Duchenne muscular dystrophy: Findings from an Argentine patient cohort
1个月前
已完结
PROGNOSTIC SIGNIFICANCE OF ACTN3 GENOTYPE IN DUCHENNE MUSCULAR DYSTROPHY: FINDINGS FROM AN ARGENTINE PATIENT COHORT
1个月前
已完结