Skeletal Dysplasias of the Human Fetus: Postmortem Diagnosis [PDF]
Anastasia Konstantinidou
core +2 more sources
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach. [PDF]
Chitty LS+6 more
europepmc +1 more source
Markers for Bone Metabolism in a Long-Lived Case of Thanatophoric Dysplasia
Tateo Kuno+3 more
openalex +2 more sources
Editorial on Genomic Mosaicism in Human Development and Diseases. [PDF]
Xi X, Yang X.
europepmc +1 more source
Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. [PDF]
Chitty LS+5 more
europepmc +1 more source
EP10.40: Thanatophoric dysplasia – ultrasound findings: report of two cases [PDF]
C. Flores Acosta+8 more
openalex +1 more source
Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies. [PDF]
Zeng Z+14 more
europepmc +1 more source
Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review. [PDF]
Cho I+7 more
europepmc +1 more source
Decision-Making in Neonatology: An Ethical Analysis from the Catholic Perspective [PDF]
Peter A. Clark
core +1 more source
Type II Thanatophoric Dysplasia
Kandi S+4 more
openaire +2 more sources