Results 211 to 220 of about 2,477,262 (230)

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing

Cerebellum, 2021
F. D’Abrusco, F. Arrigoni, Valentina Serpieri, R. Romaniello, C. Caputi, F. Manti, B. Jocic-Jakubi, E. Lucarelli, E. Panzeri, M. Bonaglia, L. Chiapparini, A. Pichiecchio, L. Pinelli, A. Righini, V. Leuzzi, R. Borgatti, E. Valente   +16 more
semanticscholar   +1 more source

[Joubert syndrome (Joubert-Boltshauser syndrome)].

Ryoikibetsu shokogun shirizu, 1999
Y, Saito, M, Tsuyusaki
openaire   +1 more source

Joubert syndrome

Paediatric Nursing, 2003
openaire   +1 more source

Clinical and molecular analysis in Joubert syndrome

American Journal of Medical Genetics Part A, 1997
Joan E Pellegrino, M William Lensch, Phillip F Chance   +2 more
exaly  

Variability of Outcome in Joubert Syndrome

Neuropediatrics, 1985
J S H Vles, H Devlieger, E Eggermont
exaly  

Prenatal diagnosis of Joubert syndrome: a case report

Prenatal Diagnosis, 2002
Halil Aslan, Ahmet Gul
exaly  

Joubert syndrome

  +6 more sources

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands

European Journal of Medical Genetics, 2008
Hester Y Kroes, Grazia M S Mancini, Jan Maarten Cobben   +2 more
exaly  

Sonographic ‘molar tooth’ sign in the diagnosis of Joubert syndrome

Ultrasound in Obstetrics and Gynecology, 2011
D Pugash, Ashley J Robinson, Margot I Van Allen   +2 more
exaly  

Clinical and molecular features of Joubert syndrome and related disorders

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2009
Melissa A Parisi
exaly