Lv1
30 积分 2022-09-05 加入
Prenatal Diagnosis of White-Sutton Syndrome Associated With Autosomal Dominant POGZ Variants Presented With Craniofacial Abnormalities and Borderline Microcephaly Identified in the Second Trimester
5天前
已关闭
Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China
5天前
已完结
Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report
5天前
已完结
Acute Liver Failure Because of Wilson Disease With Overlapping Autoimmune Hepatitis Features: The Coexistence of Two Diseases?
17天前
已完结
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencing
25天前
已完结
A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
28天前
已关闭
A Novel mtDNA Point Mutation in Maternally Inherited Cardiomyopathy
1个月前
已完结
CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
1个月前
已完结
Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study
1个月前
已完结
A prenatally diagnosed Klinefelter syndrome case of 46,XX/47,XXY mosaicism with partial deletion of Y chromosome
2个月前
已完结
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