Lv7
3400 积分 2021-08-06 加入
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia
2天前
已完结
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
7天前
已完结
Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene
12天前
已完结
Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X-linked Ohdo syndrome
12天前
已完结
MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability
12天前
已完结
Somatic mosaicism of the PI3K‐AKT‐MTOR pathway is associated with hemimegalencephaly in fetal brains
21天前
已完结
A Missense Variant in KIF14 Results in Two Gene Isoforms by Affecting Normal Gene Splicing
21天前
已完结
Diagnostic yield of prenatal exome sequencing in the genetic screening of fetuses with brain anomalies detected by MRI and ultrasonography: A systematic review and meta-analysis
21天前
已完结
Coronal vertebral clefts: a radiological indicator for chromosomal aberrations
1个月前
已完结
Nipocalimab in Early-Onset Severe Hemolytic Disease of the Fetus and Newborn
1个月前
已完结
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