Results 91 to 100 of about 1,250,329 (187)

Joubert syndrome [PDF]

, 2020
  +6 more sources

Correspondence, Wilfred A. Joubert and family, 1914

, 1914
Correspondence to Wilfred Joubert, predominantly from Ernest Rateike and H. H. Markley, his acquaintances in Mexico. A few letters from Markley also have correspondence from Mrs. Markley to the Joubert family on the back.
Markley, Lura P. (Correspondent); Markley, H. H. (Correspondent)
core  

Exploring Joubert Syndrome: A Rare Case Study from Indonesia [PDF]

Background:  Joubert Syndrome is a rare autosomal recessive disorder characterized by midbrain-hindbrain malformation and multisystem involvement.
Daniswara, Boromeus A., Siswanto, Johanes Edy, Pamungkas, Christophorus A. S., Pratanu, Lydia, Tasmina, Prayudijanto, Muhammad I.   +5 more
core   +1 more source

Joubert Syndrome: Radiographic Images

Case Reports in Clinical Practice, 2017
No ...
Reza Bidaki, Azam Ghanei, Mohammad Ebrahim Ghanei, Ehsan Zarepur   +3 more
doaj  

Issue Information

Experimental Physiology, Volume 111, Issue 9, Page 4250-4254, 1 September 2026.
wiley   +1 more source

Mitochondrial dysfunction in a patient with Joubert syndrome.

, 2005
Contains fulltext : 48821.pdf (Publisher’s version ) (Open Access)Joubert syndrome is a genetically heterogeneous disorder. The diagnostic criteria include episodic hyperventilation, abnormal eye movements, psychomotor retardation ...
Dinopoulos, A., Heuvel, L.P.W.J. van den, Rodenburg, R.J.T., Smeitink, J.A.M., Morava, E., Kroes, H.Y., Bokhoven, J.H.L.M. van   +6 more
core   +1 more source

Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene

American Journal of Ophthalmology Case Reports
Purpose: To describe unique ocular features in a child with Joubert syndrome type 6. Observations: A 4-year-old male patient presented with right microphthalmia and non-dilating pupil and left primary position nystagmus. Brain MRI revealed a “molar tooth
Maram EA Abdalla Elsayed, Syed M. Ali, Carly Gardner, Igor Kozak   +3 more
doaj   +1 more source

JOUBERTS SYNDROME

Journal of Evolution of Medical and Dental Sciences, 2015
Rekha M, Chidambaranathan S
openaire   +1 more source

[Joubert's syndrome].

Srpski arhiv za celokupno lekarstvo, 2008
In 1969 a new syndrome was described by Joubert et al. It is a very rare syndrome as only about 30 cases have been reported, and none in Yugoslavia. The main clinical characteristics are as ballows. - Disturbed respiratory rhythm alternating periods of hyperapnea and apnea) which tend to disappear as the child grows; - Abnormal eyemovements (jerky ...
D, Vranjesević, A, Djukić, N, Sekulić
openaire   +1 more source

Joubert syndrome

Indian Journal of Radiology and Imaging, 2005
R Bavaharan, NS Mani, T Mukuntharajan, N Karunakaran   +3 more
doaj   +1 more source