Results 151 to 153 of about 66,813 (153)

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

American Journal of Medical Genetics, Part A, 2001
Pierpaolo Mastroiacovo, Daniela Concolino, G Camera   +2 more
exaly  

Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation

Prenatal Diagnosis, 2000
Federico Prefumo, Paolo Tomà, Margherita Lerone   +2 more
exaly  

Thanatophoric Dysplasia

2006
exaly