Lv11
40 积分 2025-04-14 加入
Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations
2小时前
已完结
Sjögren–Larsson syndrome caused by novel mutations in ALDH3A2 gene
5天前
已完结
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population
5天前
已完结
Citrin deficiency, a perplexing global disorder
5天前
已完结
Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5%
6天前
已完结
Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3
6天前
已完结
Genetic Variants Supporting the Diagnosis of Primary Ciliary Dyskinesia in Japan
6天前
已完结
Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening
9天前
已完结
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
10天前
已完结
Analysis of F9 point mutations and their correlation to severity of haemophilia B disease
11天前
已完结
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