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356 积分 2024-05-17 加入
[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities]
20天前
已关闭
The Smallest Reported Distal 11q25 Deletion in Jacobsen Syndrome (JBS): Two Patients with Variable Phenotype
21天前
已完结
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management
1个月前
已完结
For Debate: The significance of etiologic
1个月前
已关闭
Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India
1个月前
已完结
Expanded Targeted-Exome Sequencing and Functional Validation Improve Molecular Diagnosis and Refine Genotype-Phenotype Correlations in Congenital Hypogonadotropic Hypogonadism
3个月前
已关闭
Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series
4个月前
已完结
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia
5个月前
已完结
A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature
6个月前
已关闭
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