Results 181 to 190 of about 19,788 (203)

Joubert syndrome and Joubert syndrome-related disorders

2013
Victoria Harrison, Andrea H. Németh
openaire   +1 more source

Case 25: Joubert Syndrome

Radiology, 2000
van Beek, E. J., Majoie, C. B.
openaire   +3 more sources

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome

Brain Communications, 2021
Eric Olinger, Jill Clayton-Smith, Sarah J Rice   +2 more
exaly  

[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
M William Lensch
exaly  

Prenatal diagnosis of Joubert syndrome: a case report

Prenatal Diagnosis, 2002
Halİl Aslan
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
Grazia Mancini, Dick Lindhout
exaly  

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

Ultrasound in Obstetrics and Gynecology, 2011
Ashley Robinson
exaly