Results 171 to 180 of about 1,250,329 (187)

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

Brain Communications, 2021
Ian Wilson, Lorraine Cowley, Miguel Barroso-Gil   +2 more
exaly  

[Joubert syndrome (Joubert-Boltshauser syndrome)].

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

Clinical and molecular analysis in Joubert syndrome

American Journal of Medical Genetics, Part A, 1997
Maximilian Muenke, M William Lensch, Phillip F Chance   +2 more
exaly  

Variability of Outcome in Joubert Syndrome

Neuropediatrics, 1985
J S H Vles, P Casaer, E Eggermont
exaly  

DNA analysis of , and in Joubert syndrome patients from the Netherlands

European Journal of Medical Genetics, 2008
Dick Lindhout, Richard J Sinke, Grazia M S Mancini   +2 more
exaly  

Prenatal diagnosis of Joubert syndrome: a case report

Prenatal Diagnosis, 2002
Ahmet Gül, Volkan Ülker, Ceyhun Numanoğlu   +2 more
exaly  

Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases

Brain and Development, 2018
Sen Takeda, Kiyoshi Matsui, Keishi Narita   +2 more
exaly  

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

Ultrasound in Obstetrics and Gynecology, 2011
M I van Allen, H Osiovich
exaly  

Clinical and molecular features of Joubert syndrome and related disorders†

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

Anaesthetic management of children with Joubert syndrome

Paediatric Anaesthesia, 1997
Walid Habre, Craig Sims, W Habre
exaly