Results 121 to 130 of about 12,084,964 (131)
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Growth and development in thanatophoric dysplasia – an update 25 years later

Clinical Case Reports (discontinued), 2013
Sarah Nikkel, Nathalie Major
exaly  

Prenatal diagnosis of thanatophoric dysplasia in the second trimester: ultrasonography and other diagnostic modalities

Archives of Gynecology and Obstetrics, 2002
Ateş Karateke, Ayse Gurbuz
exaly  

Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta

American Journal of Medical Genetics, Part A, 1995
Pierpaolo Mastroiacovo   +2 more
exaly  

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

American Journal of Medical Genetics, Part A, 1998
Hiroshi Kitoh, Deborah Krakow
exaly  

Prenatal diagnosis of thanatophoric dysplasia at 24 weeks

American Journal of Medical Genetics, Part A, 1984
Gianni Camera, G Camera
exaly  

Thanatophoric dysplasia with cloverleaf-skull

European Journal of Pediatrics, 1982
F Borchard, H Kemperdick
exaly  

Can biparietal diameter-to-femur length ratio be a useful sonographic marker for screening thanatophoric dysplasia since the first trimester? A literature review of case reports and a retrospective study based on 10,293 routine fetal biometry measurements

Taiwanese Journal of Obstetrics and Gynecology, 2017
Hiroyuki Seki   +2 more
exaly  

Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I

Neuropathology, 2013
Kyoko Itoh   +2 more
exaly  

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   +2 more
exaly  

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

Prenatal Diagnosis, 2000
Federico Prefumo   +2 more
exaly  
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