Lv22
184 积分 2022-10-27 加入
Brown-Vialetto-Van Laere syndrome patients with unusual phenotypes from Indian ethnicity: Functional analysis of clinical variants in SLC52A2 and SLC52A3 genes
21小时前
待确认
Genotype-Phenotype Correlation of SCN5A Genotype in Patients With Brugada Syndrome and Arrhythmic Events: Insights From the SABRUS in 392 Probands
1个月前
已完结
Genotype-Phenotype Correlation of SCN5A Genotype in Patients With Brugada Syndrome and Arrhythmic Events: Insights From the SABRUS in 392 Probands
1个月前
已完结
Investigating genetic variants in early-onset obesity through exome sequencing: A retrospective cohort study
1个月前
已完结
Primary hyperoxaluria and genetic linkages: an insight into the disease burden from Pakistan
1个月前
已完结
Clinical characteristics, genetic profile and short-term outcomes of children with primary hyperoxaluria type 2: a nationwide experience
1个月前
已关闭
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome
1个月前
已关闭
Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)
1个月前
已完结
Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum
1个月前
已关闭
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