Lv4
490 积分 2021-08-07 加入
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping
21小时前
已完结
Prenatal Diagnosis of KBG Syndrome: Phenotypic and Genotypic Features of 12 Fetal Cases With the Disorder
27天前
已完结
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
1个月前
已完结
Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature
1个月前
已完结
Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review
1个月前
已完结
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping
1个月前
已完结
Optical Genome Mapping for a Patient with a Congenital Disorder and Chromosomal Translocation
2个月前
已完结
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping
2个月前
已完结
Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?
2个月前
已完结
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