Results 121 to 130 of about 66,813 (153)

Correction to "Gene Panel Versus Whole Exome Sequencing for Fetal Anomalies". [PDF]

Prenat Diagn
europepmc   +1 more source

Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework. [PDF]

Genet Med
Edoh EYA, Mighton C, Broeren EC, Gitau VN, Ratliff J, DiStefano MT, Gadalla S, Girod A, Hughes MY, McCurry H, Patel MJ, Wilcox EH, Mohammadi M, Paschal CR, Spector E, Wilkie AOM, Zackai E, Zarate YA, Graham JM, Jabs EW, Sanchez-Lara PA, ClinGen Craniofacial Malformations Gene Curation Expert Panel.   +21 more
europepmc   +1 more source

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review. [PDF]

World J Methodol
Tsirikos AI, Jain A, Ahuja K.
europepmc   +1 more source

Editorial on Genomic Mosaicism in Human Development and Diseases. [PDF]

Genes (Basel)
Xi X, Yang X.
europepmc   +1 more source

Characterization of individuals with skeletal dysplasia at a referral center in Brazil. [PDF]

J Community Genet
Meira JGC, Migliavacca MP, Acosta AX.
europepmc   +1 more source

Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies. [PDF]

Hum Genomics
Zeng Z, Zhang L, Zhou Y, Zhang X, Yi H, Li H, Liu Y, Li J, Chen Q, Chen Y, Yu G, Yi J, Zhang Y, Zhang H, Dong Y.   +14 more
europepmc   +1 more source

Genetic Disorders Detectable by Fetal MRI: A Review. [PDF]

Diagnostics (Basel)
Wong KC, Chow TH, Cheung C, Chan JPK, Lee JCY, Kan EYL, Chu WCW.   +6 more
europepmc   +1 more source

Neonatal osteogenesis imperfecta revealed by antenatal fractures: A case report. [PDF]

Radiol Case Rep
El Messari C, Ayad A, Sellouti M, Saghir S, Abilkassem R.   +4 more
europepmc   +1 more source

Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases. [PDF]

Front Med (Lausanne)
Ge Y, Yuan H, Yu Y, Xiao J, Liu D, Peng Y, Liu Y, Huang S, Yang B, Zou Y, Liu Y.   +10 more
europepmc   +1 more source