Results 151 to 160 of about 143,001 (214)

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia [PDF]

, 2003
V.J. Hyland, Stephen P. Robertson, Simon Flanagan, Ravi Savarirayan, Tony Roscioli, J. Masel, Mark Hayes, Ian A. Glass   +7 more
openalex   +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

Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review. [PDF]

Obstet Gynecol Sci, 2014
Cho I, Shim JY, Kim GH, Yoo HW, Lee EJ, Won HS, Lee PR, Kim A.   +7 more
europepmc   +1 more source

Referee report. For: Case Report: Thanatophoric dysplasia [version 1; peer review: 1 not approved]

Ozge Ozdemir
openalex   +1 more source

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

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

Thanatophoric dysplasia

, 2017
openaire   +1 more source

Thanatophoric Dysplasia A Lethal Skeletal Dysplasia

, 2016
Nasima Akter
openalex   +2 more sources

Thanatophoric dysplasia

, 2010
openaire   +2 more sources

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

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