Lv21
140 积分 2020-09-21 加入
δ-Thalassemia with Complete Absence of Hb A2in a Chinese Family
1个月前
已完结
The Prevalence ofCHD7Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients
1个月前
已关闭
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
1个月前
已完结
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder
1个月前
已关闭
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
1个月前
已完结
[Hereditary stomatocytosis with PIEZO1 gene mutations: report of five cases and literature review]
1个月前
已完结
A novel mutation in the BTB domain impairs transcriptional repression function of KCTD1 leading to syndromic microtia
1个月前
已关闭
Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature
1个月前
已关闭
X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the <b><i>UBA1</i></b> Gene in a Family with Novel Findings from Turkey
1个月前
已关闭
Identification of UBA1 as the causative gene of an X‐linked non‐Kennedy spinal–bulbar muscular atrophy
1个月前
已完结
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