Results 161 to 170 of about 2,478 (209)

Thanatophoric dysplasia type I: a rare case report at fetal autopsy.

J Lab Physicians, 2014
Davanageri RS, Shokeen PD, Bannur HB, Patil KP.   +3 more
europepmc   +1 more source

Thanatophoric dysplasia: neuropathological findings of two cases [PDF]

, 2002
Lúcia de Noronha, Luciano M. Prevedello, Everton M. Maggio, Maria José Serapião, Luíz Fernando Bleggi Torres   +4 more
openalex  

Thanatophoric dysplasia Variant in Identical Saudi Twins; Prenatal Diagnosis and Genetic Analysis “Arabic Abstracts”

, 2009
Adnan A. Alsulaimani
openalex   +1 more source

Unraveling the complexity of skeletal dysplasias in the national health system. [PDF]

Front Endocrinol (Lausanne)
Najjar D, Maver A, Peterlin A, Jaklič H, Peterlin B.   +4 more
europepmc   +1 more source

Clinical Characterization of Michelin Tire Baby Syndrome: A Case Report Highlighting Severe Short Stature. [PDF]

Cureus
Iwai K, Okawada M.
europepmc   +1 more source

Thanatophoric dysplasia

, 2011
Tim Luijkx, Rodrigo Eckmann
openalex   +1 more source

Prenatal diagnosis of fetal thanatophoric dysplasia type 1 with de novo c.2419T > G (p. Ter807Gly) (X807G) gene mutation in fibroblast growth factor receptor 3 (FGFR3) showing increased nuchal translucency at the first trimester of gestation: A case report with review of the literature

, 2020
Michail Varras, Apostolos Fasoulopoulos, Anastasios Xefteris, Viktoria‐Konstantina Varra, Fani‐Niki Varra, Stella Akrivi, Antonia Arampatzi, Eleni Sekerli, Anastasia Konstantinidou, Antonios Kondylios   +9 more
openalex   +1 more source

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

Ayoub Ezzidi, Aziz El Mahfoudi, Bouchra Fakhir, Bahia El Horre, Lahcen Boukhanni, Karam Harrou, Hamid Asmouki, Abderraouf Soummani   +7 more
openalex   +1 more source

Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis. [PDF]

Ann Med
Shi X, Huang Y, Ding H, Zhao L, He W, Wu J.   +5 more
europepmc   +1 more source

Thanatophoric Dysplasia Detected During Prenatal Period

, 2017
Hande Özkalaycı, Esra Ataman, Murat Celıloğlu, Erdener Özer, Ayfer Ülgenalp, Murat Derya Erçal, Elçin Bora   +6 more
openalex   +1 more source