Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. Journal title: Human Molecular Genetics Authors: Alireza Baradaran-Heravi, Kyoung Sang Cho, Bas Tolhuis, Mrinmoy Sanyal, Olena Morozova, Marie Morimo... Subject(s):
Jansen Type Metaphyseal Chondrodysplasia-A Rare Presentation Journal title: Journal of Medical Science And clinical Research Authors: Dr Abir Lal Nath Subject(s):
OSTEOCHONDRODYSPLASIA IN SCOTTISH FOLD CATS CASE REPORT Journal title: TRADITION AND MODERNITY IN VETERINARY MEDICINE Authors: Nadya Zlateva-Panayotova, Georgi Marinov Subject(s):
GENETIC BACKGROUND OF CHONDRODYSPLASIA IN DOMESTIC DOG (CANIS LUPUS FAMILIARIS) – IN SILICO ANALYSIS Journal title: Acta Scientiarum Polonorum Zootechnica Authors: Patrycja Florczuk, Joanna Gruszczyńska Subject(s):
Shell-Like Thorax with Intercostal Space Ossification Complicating a Child with Empyema Thoracics and Underlying Rhizomelic Chondrodysplasia Punctata Journal title: Scholars Journal of Medical Case Reports Authors: See WS, S H Syed Rasul, J V Simon Subject(s):
Whole-Exome Sequencing Reveals a Recurrent D401N Mutation in the COMP gene that Causes Multiple Epiphyseal Dysplasia Journal title: Peer Reviewed Journal of Forensic & Genetic Sciences Authors: Han Xiao, Jing Wang, Zhuoyu Li, Changxin Wu, Yuxian Wang, Meiling Chong, Yaohong Hao Subject(s):
Calcification and Airway Stenosis in a Neonate with Chondrodysplasia Punctata Journal title: Journal of Neonatal Surgery Authors: Saurabh Garge Subject(s):