Results 161 to 170 of about 1,356 (192)

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis

European Journal of Human Genetics, 2010
Duncan B Sparrow, Merridee A Wouters, Sally L Dunwoodie   +2 more
exaly  

Treacher Collins Syndrome (Mandibulofacial Dysostosis)

Otology & Neurotology, 2002
Miquel A, Crovetto, Fred H, Linthicum
openaire   +2 more sources

Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome)

Pediatric Radiology, 2010
Norman Ramirez
exaly  

Mandibulofacial Dysostosis

American Journal of Ophthalmology, 1961
openaire   +1 more source

Mandibulofacial dysostosis.

Chinese medical journal (Peking, China : 1932), 1998
G, LOMBARDI, A, CECCHINI, R, GULIENETTI
openaire   +3 more sources

tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis–Cincinnati type

Human Molecular Genetics, 2018
Amy E Merrill, Paul A Trainor
exaly  

Mandibulofacial dysostosis

Oral Surgery, Oral Medicine, Oral Pathology, 1967
openaire   +1 more source

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1

Bone, 2018
Eleonora Palagano, Paolo Prontera, Renato Borgatti   +2 more
exaly  

Identification of novel LFNG mutations in spondylocostal dysostosis

Journal of Human Genetics, 2018
Shuji Mizumoto, 水本 秀二, Belinda Campos-Xavier, Long Guo   +2 more
exaly  

A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis

Human Genetics, 2006
Xiaoqian Ye, Ethylin Wang Jabs
exaly