Lv1
38 积分 2023-01-05 加入
A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome
6天前
已完结
Proband‐Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights
16天前
已完结
Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4
28天前
已完结
Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening
28天前
已完结
Impaired iron balance and erythrocytosis: a complex relationship
28天前
已完结
An Atypical Presentation of Dyskeratosis Congenita in a Child With a Familial RTEL1 Mutation
1个月前
已完结
Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics
1个月前
已完结
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish cases affected by hypertrophic cardiomyopathy
1个月前
已完结
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy
1个月前
已完结
Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Ichthyosis
1个月前
已完结
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