238 papers found
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Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency
Hematological Characteristics of β-Globin Gene Mutation –50 (G>A) (HBB: c.-100G>A) Carriers in Mainland China
Use of noninvasive prenatal screening with cell-free DNA in late pregnancy with sonographic soft markers
First trimester findings of decidual polyp: Caution to avoid polypectomy
Impact of cell-free fetal DNA on early invasive prenatal diagnosis at a Chinese reference maternal medicine center
Whole‐exome sequencing in the evaluation of fetal congenital anomalies of the kidney and urinary tract detected by ultrasonography
Neurofibromatosis type 1 due to possible maternal mosaicism in a family with two affected siblings
Hb Westmead (HBA2: c.369C>G): Hematological Characteristics in Heterozygotes with and without α0-Thalassemia
Hematological Characteristics of Hb Constant Spring (HBA2: c.427T>C) Carriers in Mainland China
First trimester prenatal detection of mosaic trisomy 8
Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management
All‐trans‐retinoid acid induces the differentiation of P19 cells into neurons involved in the PI3K/Akt/GSK3β signaling pathway
Recurrent hypoplasia of corpus callosum as a prenatal phenotype of Xia-Gibbs syndrome caused by maternal germline mosaicism of an AHDC1 variant
Early prenatal detection of triploidy: a 9-year experience in mainland China
Clinical utility of noninvasive prenatal screening for pathogenic copy number variants
Confined placental trisomy detection through non-invasive prenatal testing: benefit for pregnancy management
Fetal phenotype of Galloway-Mowat syndrome 3 caused by a specific OSGEP variant
The role of ultrasound in women with a positive NIPT result for trisomy 18 and 13
Carnitine palmitoyltransferase II deficiency in a prenatal case with polycystic kidney disease‐like phenotype
Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of DYNC2H1 gene
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