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The New England Journal of Medicine, ISSN 0028-4793, 01/2010, Volume 362, Issue 3, pp. 206 - 216
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 08/2019, Volume 39, Issue 9, pp. 701 - 719
Skeletal dysplasias are a heterogeneous group of conditions, many of which present unexpectedly in the prenatal period with a variety of ultrasound findings.... 
FEMUR | ACHONDROPLASIA | ACCURATE | FEASIBILITY | 3-DIMENSIONAL ULTRASOUND | GENETICS & HEREDITY | LETHAL PULMONARY HYPOPLASIA | FETUSES | FETAL LUNG-VOLUME | ASSOCIATION | ULTRASONOGRAPHIC PREDICTION | OBSTETRICS & GYNECOLOGY | Sequences | Prenatal diagnosis | Abnormalities | Phenotyping | Prenatal development | Diagnosis | Ultrasound | Index Medicus
Journal Article
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2011, Volume 155, Issue 10, pp. 2426 - 2435
Journal Article
Journal of Nepal Paediatric Society, ISSN 1990-7974, 2015, Volume 35, Issue 3, pp. 304 - 306
Journal Article
Genetic Counseling, ISSN 1015-8146, 2008, Volume 19, Issue 3, pp. 267 - 275
Journal Article
The Indian Journal of Pediatrics, ISSN 0019-5456, 11/2007, Volume 74, Issue 11, pp. 995 - 1002
Journal Article
Journal of Indian Academy of Forensic Medicine, ISSN 0971-0973, 07/2013, Volume 35, Issue 3, pp. 296 - 298
Thanatophoric Dysplasia is a rare form of neonatal lethal skeletal dysplasia, which affects 1 in 20,000 to 40,000 live births. It is characterized by... 
Thanatophoric Dysplasia | Skeletal dysplasia | Congenital | Lethal | Thanatophoric dysplasia
Journal Article
Journal of Fetal Medicine, ISSN 2348-1153, 9/2018, Volume 5, Issue 3, pp. 145 - 149
The purpose of this article is to analyse all cases of thanatophoric dysplasia and document the associated CNS anomalies. A retrospective study of all cases of... 
Obstetrics/Perinatology/Midwifery | Medicine & Public Health | Diagnostic Radiology | Clover leaf skull | Thanatophoric dysplasia | Clefting abnormalities | Maternal and Child Health | Lethal skeletal dysplasia | Ultrasound | Reproductive Medicine
Journal Article
PLOS ONE, ISSN 1932-6203, 12/2016, Volume 11, Issue 12
Introduction and Objectives Oncogenic FGFR3-TACC3 fusions and FGFR3 mutations are target candidates for small molecule inhibitors in bladder cancer (BC).... 
LUNG-CANCER | ACTIVATION | URINARY-BLADDER | UROTHELIAL CARCINOMA | MULTIDISCIPLINARY SCIENCES | GROWTH-FACTOR RECEPTOR-3 | LOW-GRADE | FGFR3 MUTATIONS | CELL-LINES | IDENTIFICATION | LETHAL SKELETAL DYSPLASIA
Journal Article