scholarly journals Joubert syndrome with Jeune asphyxiating thoracic dystrophy

2020 ◽  
Author(s):  
Keyword(s):  
Joubert Syndrome ◽  
Asphyxiating Thoracic Dystrophy ◽  
Thoracic Dystrophy

scholarly journals Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

2014 ◽  
Vol 94 (1) ◽  
pp. 62-72 ◽  
Author(s):  
Karina Tuz ◽  
Ruxandra Bachmann-Gagescu ◽  
Diana R. O’Day ◽  
Kiet Hua ◽  
Christine R. Isabella ◽  
...  
Keyword(s):  
Primary Cilia ◽  
Joubert Syndrome ◽  
Asphyxiating Thoracic Dystrophy ◽  
Thoracic Dystrophy

scholarly journals Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy

2010 ◽  
pp. n/a-n/a ◽  
Author(s):  
A.M. Lehman ◽  
P. Eydoux ◽  
D. Doherty ◽  
I.A. Glass ◽  
D. Chitayat ◽  
...  
Keyword(s):  
Joubert Syndrome ◽  
Asphyxiating Thoracic Dystrophy ◽  
Thoracic Dystrophy

scholarly journals Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

2014 ◽  
Vol 94 (2) ◽  
pp. 310 ◽  
Author(s):  
Karina Tuz ◽  
Ruxandra Bachmann-Gagescu ◽  
Diana R. O’Day ◽  
Kiet Hua ◽  
Christine R. Isabella ◽  
...  
Keyword(s):  
Primary Cilia ◽  
Joubert Syndrome ◽  
Asphyxiating Thoracic Dystrophy ◽  
Thoracic Dystrophy

Asphyxiating thoracic dystrophy: a report of 3 cases

1998 ◽  
Vol 74 (4) ◽  
pp. 333-7 ◽  
Author(s):  
Cláudia S. Orfaliais ◽  
Maria de Fátima P. March ◽  
Sidnei Ferreira ◽  
Rosana Alves ◽  
Clemax C. Sant’Anna
Keyword(s):  
Asphyxiating Thoracic Dystrophy ◽  
Thoracic Dystrophy

scholarly journals DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

2009 ◽  
Vol 84 (5) ◽  
pp. 706-711 ◽  
Author(s):  
Nathalie Dagoneau ◽  
Marie Goulet ◽  
David Geneviève ◽  
Yves Sznajer ◽  
Jelena Martinovic ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Type Iii ◽  
Asphyxiating Thoracic Dystrophy ◽  
Short Rib Polydactyly Syndrome ◽  
Thoracic Dystrophy

Dynamic thoracoplasty for asphyxiating thoracic dystrophy

2001 ◽  
Vol 72 (5) ◽  
pp. 1755-1758 ◽  
Author(s):  
Imad L. Kaddoura ◽  
Mounir Y. Obeid ◽  
Salman M. Mroueh ◽  
Ali A. Nasser
Keyword(s):  
Asphyxiating Thoracic Dystrophy ◽  
Thoracic Dystrophy

Asphyxiating Thoracic Dystrophy

1969 ◽  
Vol 8 (3) ◽  
pp. 165-170 ◽  
Author(s):  
Frederick M. Burkle ◽  
Anthony J. Bravo
Keyword(s):  
Asphyxiating Thoracic Dystrophy ◽  
Thoracic Dystrophy
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