Lv52
860 积分 2021-12-17 加入
Expanded prenatal phenotype of ALG12‐associated congenital disorder of glycosylation including bilateral multicystic kidneys
2小时前
已完结
Biallelic variants in AGRN with recurrent pregnancy losses in a family with a fetal akinesia deformation sequence
22小时前
已完结
Expanding the spectrum of ADNP‐related disorder‐Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene
23小时前
已完结
[Two Novel Mutations at the CD36 Gene Splicing Sites and Their Molecular Basis for the CD36 Deficiency]
13天前
已完结
Tandem Triplication 11p15.5-ICR1 (H19/IGF2) Detected by Microarray and Optical Genome Mapping in a Prenatal Beckwith-Wiedemann Case
3个月前
已关闭
X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing
6个月前
已完结
Two patients with KDM3B variants and new presentations of Diets–Jongmans syndrome
9个月前
已完结
Six Different Point Mutations in Seven Danish Families with Symptomatic Protein C Deficiency
10个月前
已完结
Clinical exome sequencing findings in 1589 patients
11个月前
已完结
Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease
1年前
已完结
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