Lv31
246 积分 2024-05-17 加入
Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series
7小时前
已完结
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia
17天前
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
2个月前
已关闭
A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature
2个月前
已关闭
Short Stature due to Bioinactive Growth Hormone (Kowarski Syndrome)
2个月前
已完结
Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant
3个月前
已完结
Kartagener Syndrome Associated with a Family History of Dextrocardia – First Patient to be reported in Romania
3个月前
已关闭
Diagnostic and clinical utility of genetic testing in children with kidney failure
3个月前
已完结
[Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1]
3个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
3个月前
已关闭
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