Lv11
50 积分 2025-10-13 加入
Novel PKP2 compound heterozygous mutations causing neonatal early-onset arrhythmogenic cardiomyopathy: insights into the synergistic pathogenicity of biallelic inactivation
1小时前
已完结
A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil
14天前
已完结
PTPN11(Protein-Tyrosine Phosphatase, Nonreceptor-Type 11) Mutations in Seven Japanese Patients with Noonan Syndrome
22天前
已完结
Identification of Three Novel Mutations in the KAL1 Gene in Patients with Kallmann Syndrome
1个月前
已完结
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature
1个月前
已关闭
[Key updates in the 2024 Edition of the International System for Human Cytogenomic Nomenclature (ISCN)]
2个月前
已完结
[Prenatal utility of parental source verification on the interpretation of copy number variation identified by chromosomal microarray analysis]
2个月前
已完结
A de novo int22h‐1/int22h‐2‐flanked Xq28 deletion‐associated preferential X‐inactivation in a female with severe hemophilia B
5个月前
已完结
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