Results 201 to 210 of about 143,001 (214)

EP27.13: Three‐dimensional ultrasound: an important tool for prenatal care and establishment of palliative management in thanatophoric dysplasia

Ultrasound in Obstetrics & Gynecology, 2022
S. S. Herbst, C. Drummond, M. Alves, P. Coelho, M. Soares, I. Britto, G. Tedesco, L. Bussamra   +7 more
semanticscholar   +1 more source

Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.

European Journal of Medical Genetics, 2021
C. Hall, Becky Liu, A. Haworth, L. Reed, J. Pryce, S. Mansour   +5 more
semanticscholar   +1 more source

Prenatal Diagnosis and Management of Thanatophoric Dysplasia Type 1: A Case Report and Literature Review

OALib
Ayoub Ezzidi, A. Mahfoudi, B. Fakhir, Bahia El Horre, Boukhanni Lahcen, K. Harrou, H. Asmouki, Abdrraouf Soummani   +7 more
semanticscholar   +1 more source

Chronic Respiratory Failure, Restrictive Lung Disease, and Skeletal Abnormalities in a Preterm Infant: A Case of Thanatophoric Dysplasia

Section on Pediatric Trainees Program, 2021
B. Truitt, J. Gadde, A. Kasi
semanticscholar   +1 more source

Prenatal diagnosis of a pair of twins with thanatophoric dysplasia type I and Down syndrome: a case report

Hong Kong Journal of Gynaecology, Obstetrics and Midwifery
Tsoi Yan Dorothy Chan, Pui Wah Hui, Sik-yau Anita. Kan   +2 more
semanticscholar   +1 more source

VP18.09: Quantification of craniofacial abnormalities in thanatophoric dysplasia and Cornelia de lange syndrome from three‐dimensional ultrasound

Ultrasound in Obstetrics and Gynecology, 2021
A. Clark, R. Sivera, A. Dall'asta, S. Schievano, C. Lees   +4 more
semanticscholar   +1 more source

Thanatophoric Dysplasia

1978
Bryan J. Cremin, Peter Beighton
openaire   +1 more source

A single multiplex PCR and Single Nucleotide Extension Assay for the detection of common Thanatophoric dysplasia I and II mutations.

Journal of Molecular Diagnostics
M. Jama, N. Reading, Eric Fredrickson, Sherin Shaaban, Yuan Ji   +4 more
semanticscholar   +1 more source

Thanatophoric Dysplasia

2006
openaire   +2 more sources

Thanatophoric Dysplasia

2005
openaire   +1 more source