Lv1
100 积分 2025-10-13 加入
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis
5个月前
已完结
Diagnosis and Treatment of Inherited Renal Tubular Dysgenesis Caused by ACE Gene Mutation: A Single-Center Experience
5个月前
已完结
Novel PKP2 compound heterozygous mutations causing neonatal early-onset arrhythmogenic cardiomyopathy: insights into the synergistic pathogenicity of biallelic inactivation
6个月前
已完结
A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil
6个月前
已完结
PTPN11(Protein-Tyrosine Phosphatase, Nonreceptor-Type 11) Mutations in Seven Japanese Patients with Noonan Syndrome
6个月前
已完结
Identification of Three Novel Mutations in the KAL1 Gene in Patients with Kallmann Syndrome
7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
7个月前
已关闭
[Key updates in the 2024 Edition of the International System for Human Cytogenomic Nomenclature (ISCN)]
8个月前
已完结
[Prenatal utility of parental source verification on the interpretation of copy number variation identified by chromosomal microarray analysis]
8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
11个月前
已完结
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